SNP Links for Protein (Select 530418456) - SNP

Select item 14754655221.

rs1475465522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31639980 (GRCh38)
20:30227783 (GRCh37)
Canonical SPDI:: NC_000020.11:31639979:C:T
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31639980C>T, NC_000020.10:g.30227783C>T, NG_012180.1:g.7093C>T, NM_032609.3:c.130C>T, NM_032609.2:c.130C>T, XM_005260579.5:c.145C>T, XM_005260579.4:c.145C>T, XM_005260579.3:c.145C>T, XM_005260579.2:c.145C>T, XM_005260579.1:c.145C>T, XM_005260580.5:c.145C>T, XM_005260580.4:c.145C>T, XM_005260580.3:c.145C>T, XM_005260580.2:c.145C>T, XM_005260580.1:c.145C>T, XM_005260581.4:c.130C>T, XM_005260581.3:c.130C>T, XM_005260581.2:c.130C>T, XM_005260581.1:c.130C>T, NP_115998.2:p.Arg44Cys, XP_005260636.1:p.Arg49Cys, XP_005260637.1:p.Arg49Cys, XP_005260638.1:p.Arg44Cys

Select item 14724278422.

rs1472427842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:31639965 (GRCh38)
20:30227768 (GRCh37)
Canonical SPDI:: NC_000020.11:31639964:A:C
Gene:: COX4I2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31639965A>C, NC_000020.10:g.30227768A>C, NG_012180.1:g.7078A>C, NM_032609.3:c.115A>C, NM_032609.2:c.115A>C, XM_005260579.5:c.130A>C, XM_005260579.4:c.130A>C, XM_005260579.3:c.130A>C, XM_005260579.2:c.130A>C, XM_005260579.1:c.130A>C, XM_005260580.5:c.130A>C, XM_005260580.4:c.130A>C, XM_005260580.3:c.130A>C, XM_005260580.2:c.130A>C, XM_005260580.1:c.130A>C, XM_005260581.4:c.115A>C, XM_005260581.3:c.115A>C, XM_005260581.2:c.115A>C, XM_005260581.1:c.115A>C, NP_115998.2:p.Asn39His, XP_005260636.1:p.Asn44His, XP_005260637.1:p.Asn44His, XP_005260638.1:p.Asn39His

Select item 14596635703.

rs1459663570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:31644863 (GRCh38)
20:30232666 (GRCh37)
Canonical SPDI:: NC_000020.11:31644862:G:C,NC_000020.11:31644862:G:T
Gene:: COX4I2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31644863G>C, NC_000020.11:g.31644863G>T, NC_000020.10:g.30232666G>C, NC_000020.10:g.30232666G>T, NG_012180.1:g.11976G>C, NG_012180.1:g.11976G>T, NM_032609.3:c.475G>C, NM_032609.3:c.475G>T, NM_032609.2:c.475G>C, NM_032609.2:c.475G>T, XM_005260579.5:c.490G>C, XM_005260579.5:c.490G>T, XM_005260579.4:c.490G>C, XM_005260579.4:c.490G>T, XM_005260579.3:c.490G>C, XM_005260579.3:c.490G>T, XM_005260579.2:c.490G>C, XM_005260579.2:c.490G>T, XM_005260579.1:c.490G>C, XM_005260579.1:c.490G>T, XM_005260580.5:c.358G>C, XM_005260580.5:c.358G>T, XM_005260580.4:c.358G>C, XM_005260580.4:c.358G>T, XM_005260580.3:c.358G>C, XM_005260580.3:c.358G>T, XM_005260580.2:c.358G>C, XM_005260580.2:c.358G>T, XM_005260580.1:c.358G>C, XM_005260580.1:c.358G>T, XM_005260581.4:c.343G>C, XM_005260581.4:c.343G>T, XM_005260581.3:c.343G>C, XM_005260581.3:c.343G>T, XM_005260581.2:c.343G>C, XM_005260581.2:c.343G>T, XM_005260581.1:c.343G>C, XM_005260581.1:c.343G>T, NP_115998.2:p.Ala159Pro, NP_115998.2:p.Ala159Ser, XP_005260636.1:p.Ala164Pro, XP_005260636.1:p.Ala164Ser, XP_005260637.1:p.Ala120Pro, XP_005260637.1:p.Ala120Ser, XP_005260638.1:p.Ala115Pro, XP_005260638.1:p.Ala115Ser

Select item 14499420504.

rs1449942050 has merged into rs144435300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:31639940 (GRCh38)
20:30227744 (GRCh37)
Canonical SPDI:: NC_000020.11:31639940:GGGGGG:GGGGGGG
Gene:: COX4I2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31639946dup, NC_000020.10:g.30227749dup, NG_012180.1:g.7059dup, NM_032609.3:c.96dup, NM_032609.2:c.96dup, XM_005260579.5:c.111dup, XM_005260579.4:c.111dup, XM_005260579.3:c.111dup, XM_005260579.2:c.111dup, XM_005260579.1:c.111dup, XM_005260580.5:c.111dup, XM_005260580.4:c.111dup, XM_005260580.3:c.111dup, XM_005260580.2:c.111dup, XM_005260580.1:c.111dup, XM_005260581.4:c.96dup, XM_005260581.3:c.96dup, XM_005260581.2:c.96dup, XM_005260581.1:c.96dup, NP_115998.2:p.Lys33fs, XP_005260636.1:p.Lys38fs, XP_005260637.1:p.Lys38fs, XP_005260638.1:p.Lys33fs

Select item 14446919165.

rs1444691916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31639955 (GRCh38)
20:30227758 (GRCh37)
Canonical SPDI:: NC_000020.11:31639954:C:T
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31639955C>T, NC_000020.10:g.30227758C>T, NG_012180.1:g.7068C>T, NM_032609.3:c.105C>T, NM_032609.2:c.105C>T, XM_005260579.5:c.120C>T, XM_005260579.4:c.120C>T, XM_005260579.3:c.120C>T, XM_005260579.2:c.120C>T, XM_005260579.1:c.120C>T, XM_005260580.5:c.120C>T, XM_005260580.4:c.120C>T, XM_005260580.3:c.120C>T, XM_005260580.2:c.120C>T, XM_005260580.1:c.120C>T, XM_005260581.4:c.105C>T, XM_005260581.3:c.105C>T, XM_005260581.2:c.105C>T, XM_005260581.1:c.105C>T

Select item 14421348776.

rs1442134877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31639220 (GRCh38)
20:30227023 (GRCh37)
Canonical SPDI:: NC_000020.11:31639219:G:A
Gene:: COX4I2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31639220G>A, NC_000020.10:g.30227023G>A, NG_012180.1:g.6333G>A, XM_005260579.5:c.37G>A, XM_005260579.4:c.37G>A, XM_005260579.3:c.37G>A, XM_005260579.2:c.37G>A, XM_005260579.1:c.37G>A, XM_005260580.5:c.37G>A, XM_005260580.4:c.37G>A, XM_005260580.3:c.37G>A, XM_005260580.2:c.37G>A, XM_005260580.1:c.37G>A, XP_005260636.1:p.Val13Ile, XP_005260637.1:p.Val13Ile

Select item 14389702017.

rs1438970201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:31644858 (GRCh38)
20:30232661 (GRCh37)
Canonical SPDI:: NC_000020.11:31644857:G:T
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31644858G>T, NC_000020.10:g.30232661G>T, NG_012180.1:g.11971G>T, NM_032609.3:c.470G>T, NM_032609.2:c.470G>T, XM_005260579.5:c.485G>T, XM_005260579.4:c.485G>T, XM_005260579.3:c.485G>T, XM_005260579.2:c.485G>T, XM_005260579.1:c.485G>T, XM_005260580.5:c.353G>T, XM_005260580.4:c.353G>T, XM_005260580.3:c.353G>T, XM_005260580.2:c.353G>T, XM_005260580.1:c.353G>T, XM_005260581.4:c.338G>T, XM_005260581.3:c.338G>T, XM_005260581.2:c.338G>T, XM_005260581.1:c.338G>T, NP_115998.2:p.Gly157Val, XP_005260636.1:p.Gly162Val, XP_005260637.1:p.Gly118Val, XP_005260638.1:p.Gly113Val

Select item 14233214178.

rs1423321417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31644817 (GRCh38)
20:30232620 (GRCh37)
Canonical SPDI:: NC_000020.11:31644816:G:A
Gene:: COX4I2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.31644817G>A, NC_000020.10:g.30232620G>A, NG_012180.1:g.11930G>A, NM_032609.3:c.429G>A, NM_032609.2:c.429G>A, XM_005260579.5:c.444G>A, XM_005260579.4:c.444G>A, XM_005260579.3:c.444G>A, XM_005260579.2:c.444G>A, XM_005260579.1:c.444G>A, XM_005260580.5:c.312G>A, XM_005260580.4:c.312G>A, XM_005260580.3:c.312G>A, XM_005260580.2:c.312G>A, XM_005260580.1:c.312G>A, XM_005260581.4:c.297G>A, XM_005260581.3:c.297G>A, XM_005260581.2:c.297G>A, XM_005260581.1:c.297G>A

Select item 14229733819.

rs1422973381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:31639989 (GRCh38)
20:30227792 (GRCh37)
Canonical SPDI:: NC_000020.11:31639988:C:A
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31639989C>A, NC_000020.10:g.30227792C>A, NG_012180.1:g.7102C>A, NM_032609.3:c.139C>A, NM_032609.2:c.139C>A, XM_005260579.5:c.154C>A, XM_005260579.4:c.154C>A, XM_005260579.3:c.154C>A, XM_005260579.2:c.154C>A, XM_005260579.1:c.154C>A, XM_005260580.5:c.154C>A, XM_005260580.4:c.154C>A, XM_005260580.3:c.154C>A, XM_005260580.2:c.154C>A, XM_005260580.1:c.154C>A, XM_005260581.4:c.139C>A, XM_005260581.3:c.139C>A, XM_005260581.2:c.139C>A, XM_005260581.1:c.139C>A, NP_115998.2:p.Pro47Thr, XP_005260636.1:p.Pro52Thr, XP_005260637.1:p.Pro52Thr, XP_005260638.1:p.Pro47Thr

Select item 141937149710.

rs1419371497 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACACC>- [Show Flanks]
Chromosome:: 20:31639959 (GRCh38)
20:30227762 (GRCh37)
Canonical SPDI:: NC_000020.11:31639956:CCTACACC:CC
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31639959_31639964del, NC_000020.10:g.30227762_30227767del, NG_012180.1:g.7072_7077del, NM_032609.3:c.109_114del, NM_032609.2:c.109_114del, XM_005260579.5:c.124_129del, XM_005260579.4:c.124_129del, XM_005260579.3:c.124_129del, XM_005260579.2:c.124_129del, XM_005260579.1:c.124_129del, XM_005260580.5:c.124_129del, XM_005260580.4:c.124_129del, XM_005260580.3:c.124_129del, XM_005260580.2:c.124_129del, XM_005260580.1:c.124_129del, XM_005260581.4:c.109_114del, XM_005260581.3:c.109_114del, XM_005260581.2:c.109_114del, XM_005260581.1:c.109_114del, NP_115998.2:p.Tyr37_Thr38del, XP_005260636.1:p.Tyr42_Thr43del, XP_005260637.1:p.Tyr42_Thr43del, XP_005260638.1:p.Tyr37_Thr38del

Select item 140918882311.

rs1409188823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:31644775 (GRCh38)
20:30232578 (GRCh37)
Canonical SPDI:: NC_000020.11:31644774:T:A,NC_000020.11:31644774:T:C
Gene:: COX4I2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31644775T>A, NC_000020.11:g.31644775T>C, NC_000020.10:g.30232578T>A, NC_000020.10:g.30232578T>C, NG_012180.1:g.11888T>A, NG_012180.1:g.11888T>C, NM_032609.3:c.387T>A, NM_032609.3:c.387T>C, NM_032609.2:c.387T>A, NM_032609.2:c.387T>C, XM_005260579.5:c.402T>A, XM_005260579.5:c.402T>C, XM_005260579.4:c.402T>A, XM_005260579.4:c.402T>C, XM_005260579.3:c.402T>A, XM_005260579.3:c.402T>C, XM_005260579.2:c.402T>A, XM_005260579.2:c.402T>C, XM_005260579.1:c.402T>A, XM_005260579.1:c.402T>C, XM_005260580.5:c.270T>A, XM_005260580.5:c.270T>C, XM_005260580.4:c.270T>A, XM_005260580.4:c.270T>C, XM_005260580.3:c.270T>A, XM_005260580.3:c.270T>C, XM_005260580.2:c.270T>A, XM_005260580.2:c.270T>C, XM_005260580.1:c.270T>A, XM_005260580.1:c.270T>C, XM_005260581.4:c.255T>A, XM_005260581.4:c.255T>C, XM_005260581.3:c.255T>A, XM_005260581.3:c.255T>C, XM_005260581.2:c.255T>A, XM_005260581.2:c.255T>C, XM_005260581.1:c.255T>A, XM_005260581.1:c.255T>C

Select item 140720937612.

rs1407209376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:31639276 (GRCh38)
20:30227079 (GRCh37)
Canonical SPDI:: NC_000020.11:31639275:G:A,NC_000020.11:31639275:G:C
Gene:: COX4I2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.31639276G>A, NC_000020.11:g.31639276G>C, NC_000020.10:g.30227079G>A, NC_000020.10:g.30227079G>C, NG_012180.1:g.6389G>A, NG_012180.1:g.6389G>C, XM_005260579.5:c.93G>A, XM_005260579.5:c.93G>C, XM_005260579.4:c.93G>A, XM_005260579.4:c.93G>C, XM_005260579.3:c.93G>A, XM_005260579.3:c.93G>C, XM_005260579.2:c.93G>A, XM_005260579.2:c.93G>C, XM_005260579.1:c.93G>A, XM_005260579.1:c.93G>C, XM_005260580.5:c.93G>A, XM_005260580.5:c.93G>C, XM_005260580.4:c.93G>A, XM_005260580.4:c.93G>C, XM_005260580.3:c.93G>A, XM_005260580.3:c.93G>C, XM_005260580.2:c.93G>A, XM_005260580.2:c.93G>C, XM_005260580.1:c.93G>A, XM_005260580.1:c.93G>C

Select item 140420341413.

rs1404203414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31640062 (GRCh38)
20:30227865 (GRCh37)
Canonical SPDI:: NC_000020.11:31640061:G:A
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31640062G>A, NC_000020.10:g.30227865G>A, NG_012180.1:g.7175G>A, NM_032609.3:c.212G>A, NM_032609.2:c.212G>A, XM_005260579.5:c.227G>A, XM_005260579.4:c.227G>A, XM_005260579.3:c.227G>A, XM_005260579.2:c.227G>A, XM_005260579.1:c.227G>A, XM_005260580.5:c.227G>A, XM_005260580.4:c.227G>A, XM_005260580.3:c.227G>A, XM_005260580.2:c.227G>A, XM_005260580.1:c.227G>A, XM_005260581.4:c.212G>A, XM_005260581.3:c.212G>A, XM_005260581.2:c.212G>A, XM_005260581.1:c.212G>A, NP_115998.2:p.Ser71Asn, XP_005260636.1:p.Ser76Asn, XP_005260637.1:p.Ser76Asn, XP_005260638.1:p.Ser71Asn

Select item 139141043814.

rs1391410438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:31639974 (GRCh38)
20:30227777 (GRCh37)
Canonical SPDI:: NC_000020.11:31639973:G:C
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.31639974G>C, NC_000020.10:g.30227777G>C, NG_012180.1:g.7087G>C, NM_032609.3:c.124G>C, NM_032609.2:c.124G>C, XM_005260579.5:c.139G>C, XM_005260579.4:c.139G>C, XM_005260579.3:c.139G>C, XM_005260579.2:c.139G>C, XM_005260579.1:c.139G>C, XM_005260580.5:c.139G>C, XM_005260580.4:c.139G>C, XM_005260580.3:c.139G>C, XM_005260580.2:c.139G>C, XM_005260580.1:c.139G>C, XM_005260581.4:c.124G>C, XM_005260581.3:c.124G>C, XM_005260581.2:c.124G>C, XM_005260581.1:c.124G>C, NP_115998.2:p.Ala42Pro, XP_005260636.1:p.Ala47Pro, XP_005260637.1:p.Ala47Pro, XP_005260638.1:p.Ala42Pro

Select item 138818311115.

rs1388183111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:31644793 (GRCh38)
20:30232596 (GRCh37)
Canonical SPDI:: NC_000020.11:31644792:G:T
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31644793G>T, NC_000020.10:g.30232596G>T, NG_012180.1:g.11906G>T, NM_032609.3:c.405G>T, NM_032609.2:c.405G>T, XM_005260579.5:c.420G>T, XM_005260579.4:c.420G>T, XM_005260579.3:c.420G>T, XM_005260579.2:c.420G>T, XM_005260579.1:c.420G>T, XM_005260580.5:c.288G>T, XM_005260580.4:c.288G>T, XM_005260580.3:c.288G>T, XM_005260580.2:c.288G>T, XM_005260580.1:c.288G>T, XM_005260581.4:c.273G>T, XM_005260581.3:c.273G>T, XM_005260581.2:c.273G>T, XM_005260581.1:c.273G>T, NP_115998.2:p.Leu135Phe, XP_005260636.1:p.Leu140Phe, XP_005260637.1:p.Leu96Phe, XP_005260638.1:p.Leu91Phe

Select item 137362314816.

rs1373623148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:31639230 (GRCh38)
20:30227033 (GRCh37)
Canonical SPDI:: NC_000020.11:31639229:T:G
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31639230T>G, NC_000020.10:g.30227033T>G, NG_012180.1:g.6343T>G, XM_005260579.5:c.47T>G, XM_005260579.4:c.47T>G, XM_005260579.3:c.47T>G, XM_005260579.2:c.47T>G, XM_005260579.1:c.47T>G, XM_005260580.5:c.47T>G, XM_005260580.4:c.47T>G, XM_005260580.3:c.47T>G, XM_005260580.2:c.47T>G, XM_005260580.1:c.47T>G, XP_005260636.1:p.Ile16Ser, XP_005260637.1:p.Ile16Ser

Select item 137182468517.

rs1371824685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31639203 (GRCh38)
20:30227006 (GRCh37)
Canonical SPDI:: NC_000020.11:31639202:C:T
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31639203C>T, NC_000020.10:g.30227006C>T, NG_012180.1:g.6316C>T, XM_005260579.5:c.20C>T, XM_005260579.4:c.20C>T, XM_005260579.3:c.20C>T, XM_005260579.2:c.20C>T, XM_005260579.1:c.20C>T, XM_005260580.5:c.20C>T, XM_005260580.4:c.20C>T, XM_005260580.3:c.20C>T, XM_005260580.2:c.20C>T, XM_005260580.1:c.20C>T, XP_005260636.1:p.Ser7Phe, XP_005260637.1:p.Ser7Phe

Select item 136468364318.

rs1364683643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:31639942 (GRCh38)
20:30227745 (GRCh37)
Canonical SPDI:: NC_000020.11:31639941:G:A,NC_000020.11:31639941:G:C
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.31639942G>A, NC_000020.11:g.31639942G>C, NC_000020.10:g.30227745G>A, NC_000020.10:g.30227745G>C, NG_012180.1:g.7055G>A, NG_012180.1:g.7055G>C, NM_032609.3:c.92G>A, NM_032609.3:c.92G>C, NM_032609.2:c.92G>A, NM_032609.2:c.92G>C, XM_005260579.5:c.107G>A, XM_005260579.5:c.107G>C, XM_005260579.4:c.107G>A, XM_005260579.4:c.107G>C, XM_005260579.3:c.107G>A, XM_005260579.3:c.107G>C, XM_005260579.2:c.107G>A, XM_005260579.2:c.107G>C, XM_005260579.1:c.107G>A, XM_005260579.1:c.107G>C, XM_005260580.5:c.107G>A, XM_005260580.5:c.107G>C, XM_005260580.4:c.107G>A, XM_005260580.4:c.107G>C, XM_005260580.3:c.107G>A, XM_005260580.3:c.107G>C, XM_005260580.2:c.107G>A, XM_005260580.2:c.107G>C, XM_005260580.1:c.107G>A, XM_005260580.1:c.107G>C, XM_005260581.4:c.92G>A, XM_005260581.4:c.92G>C, XM_005260581.3:c.92G>A, XM_005260581.3:c.92G>C, XM_005260581.2:c.92G>A, XM_005260581.2:c.92G>C, XM_005260581.1:c.92G>A, XM_005260581.1:c.92G>C, NP_115998.2:p.Gly31Glu, NP_115998.2:p.Gly31Ala, XP_005260636.1:p.Gly36Glu, XP_005260636.1:p.Gly36Ala, XP_005260637.1:p.Gly36Glu, XP_005260637.1:p.Gly36Ala, XP_005260638.1:p.Gly31Glu, XP_005260638.1:p.Gly31Ala

Select item 136396575219.

rs1363965752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31644860 (GRCh38)
20:30232663 (GRCh37)
Canonical SPDI:: NC_000020.11:31644859:C:T
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.31644860C>T, NC_000020.10:g.30232663C>T, NG_012180.1:g.11973C>T, NM_032609.3:c.472C>T, NM_032609.2:c.472C>T, XM_005260579.5:c.487C>T, XM_005260579.4:c.487C>T, XM_005260579.3:c.487C>T, XM_005260579.2:c.487C>T, XM_005260579.1:c.487C>T, XM_005260580.5:c.355C>T, XM_005260580.4:c.355C>T, XM_005260580.3:c.355C>T, XM_005260580.2:c.355C>T, XM_005260580.1:c.355C>T, XM_005260581.4:c.340C>T, XM_005260581.3:c.340C>T, XM_005260581.2:c.340C>T, XM_005260581.1:c.340C>T

Select item 135724113620.

rs1357241136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:31644890 (GRCh38)
20:30232693 (GRCh37)
Canonical SPDI:: NC_000020.11:31644889:C:A
Gene:: COX4I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31644890C>A, NC_000020.10:g.30232693C>A, NG_012180.1:g.12003C>A, NM_032609.3:c.502C>A, NM_032609.2:c.502C>A, XM_005260579.5:c.517C>A, XM_005260579.4:c.517C>A, XM_005260579.3:c.517C>A, XM_005260579.2:c.517C>A, XM_005260579.1:c.517C>A, XM_005260580.5:c.385C>A, XM_005260580.4:c.385C>A, XM_005260580.3:c.385C>A, XM_005260580.2:c.385C>A, XM_005260580.1:c.385C>A, XM_005260581.4:c.370C>A, XM_005260581.3:c.370C>A, XM_005260581.2:c.370C>A, XM_005260581.1:c.370C>A, NP_115998.2:p.Gln168Lys, XP_005260636.1:p.Gln173Lys, XP_005260637.1:p.Gln129Lys, XP_005260638.1:p.Gln124Lys

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