SNP Links for Protein (Select 46852178) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:84971457 (GRCh38)
2:85198580 (GRCh37)
Canonical SPDI:: NC_000002.12:84971456:C:G
Gene:: KCMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.84971457C>G, NC_000002.11:g.85198580C>G, NM_020122.5:c.6C>G, NM_020122.4:c.6C>G, XM_047445126.1:c.-266C>G

Select item 145145373011.

rs1451453730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85027953 (GRCh38)
2:85255076 (GRCh37)
Canonical SPDI:: NC_000002.12:85027952:C:T
Gene:: KCMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85027953C>T, NC_000002.11:g.85255076C>T, NM_020122.5:c.81C>T, NM_020122.4:c.81C>T, XM_006712052.4:c.105C>T, XM_006712052.3:c.105C>T, XM_006712052.2:c.105C>T, XM_006712052.1:c.105C>T, XM_047445126.1:c.-73C>T

Select item 144836560612.

rs1448365606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85053196 (GRCh38)
2:85280319 (GRCh37)
Canonical SPDI:: NC_000002.12:85053195:C:T
Gene:: KCMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85053196C>T, NC_000002.11:g.85280319C>T, NM_020122.5:c.933C>T, NM_020122.4:c.933C>T, XM_006712052.4:c.957C>T, XM_006712052.3:c.957C>T, XM_006712052.2:c.957C>T, XM_006712052.1:c.957C>T, XM_047445126.1:c.780C>T

Select item 144736452813.

rs1447364528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85046237 (GRCh38)
2:85273360 (GRCh37)
Canonical SPDI:: NC_000002.12:85046236:C:T
Gene:: KCMF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.85046237C>T, NC_000002.11:g.85273360C>T, NM_020122.5:c.560C>T, NM_020122.4:c.560C>T, XM_006712052.4:c.584C>T, XM_006712052.3:c.584C>T, XM_006712052.2:c.584C>T, XM_006712052.1:c.584C>T, XM_047445126.1:c.407C>T, NP_064507.3:p.Ser187Leu, XP_006712115.1:p.Ser195Leu, XP_047301082.1:p.Ser136Leu

Select item 144634996214.

rs1446349962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:85046220 (GRCh38)
2:85273343 (GRCh37)
Canonical SPDI:: NC_000002.12:85046219:T:G
Gene:: KCMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85046220T>G, NC_000002.11:g.85273343T>G, NM_020122.5:c.543T>G, NM_020122.4:c.543T>G, XM_006712052.4:c.567T>G, XM_006712052.3:c.567T>G, XM_006712052.2:c.567T>G, XM_006712052.1:c.567T>G, XM_047445126.1:c.390T>G

Select item 144493215715.

rs1444932157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:85053403 (GRCh38)
2:85280526 (GRCh37)
Canonical SPDI:: NC_000002.12:85053402:T:A
Gene:: KCMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.85053403T>A, NC_000002.11:g.85280526T>A, NM_020122.5:c.1140T>A, NM_020122.4:c.1140T>A, XM_006712052.4:c.1164T>A, XM_006712052.3:c.1164T>A, XM_006712052.2:c.1164T>A, XM_006712052.1:c.1164T>A, XM_047445126.1:c.987T>A

Select item 144287693816.

rs1442876938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:85043663 (GRCh38)
2:85270786 (GRCh37)
Canonical SPDI:: NC_000002.12:85043662:T:G
Gene:: KCMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85043663T>G, NC_000002.11:g.85270786T>G, NM_020122.5:c.424T>G, NM_020122.4:c.424T>G, XM_006712052.4:c.448T>G, XM_006712052.3:c.448T>G, XM_006712052.2:c.448T>G, XM_006712052.1:c.448T>G, XM_047445126.1:c.271T>G, NP_064507.3:p.Leu142Val, XP_006712115.1:p.Leu150Val, XP_047301082.1:p.Leu91Val

Select item 143987717717.

rs1439877177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:85043652 (GRCh38)
2:85270775 (GRCh37)
Canonical SPDI:: NC_000002.12:85043651:C:A
Gene:: KCMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85043652C>A, NC_000002.11:g.85270775C>A, NM_020122.5:c.413C>A, NM_020122.4:c.413C>A, XM_006712052.4:c.437C>A, XM_006712052.3:c.437C>A, XM_006712052.2:c.437C>A, XM_006712052.1:c.437C>A, XM_047445126.1:c.260C>A, NP_064507.3:p.Ala138Asp, XP_006712115.1:p.Ala146Asp, XP_047301082.1:p.Ala87Asp

Select item 143955427418.

rs1439554274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85046191 (GRCh38)
2:85273314 (GRCh37)
Canonical SPDI:: NC_000002.12:85046190:C:T
Gene:: KCMF1 (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_000002.12:g.85046191C>T, NC_000002.11:g.85273314C>T, NM_020122.5:c.514C>T, NM_020122.4:c.514C>T, XM_006712052.4:c.538C>T, XM_006712052.3:c.538C>T, XM_006712052.2:c.538C>T, XM_006712052.1:c.538C>T, XM_047445126.1:c.361C>T, NP_064507.3:p.His172Tyr, XP_006712115.1:p.His180Tyr, XP_047301082.1:p.His121Tyr

Select item 143928874319.

rs1439288743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85046123 (GRCh38)
2:85273246 (GRCh37)
Canonical SPDI:: NC_000002.12:85046122:G:A
Gene:: KCMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85046123G>A, NC_000002.11:g.85273246G>A, NM_020122.5:c.446G>A, NM_020122.4:c.446G>A, XM_006712052.4:c.470G>A, XM_006712052.3:c.470G>A, XM_006712052.2:c.470G>A, XM_006712052.1:c.470G>A, XM_047445126.1:c.293G>A, NP_064507.3:p.Arg149Gln, XP_006712115.1:p.Arg157Gln, XP_047301082.1:p.Arg98Gln

Select item 143831078620.

rs1438310786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85046132 (GRCh38)
2:85273255 (GRCh37)
Canonical SPDI:: NC_000002.12:85046131:G:A
Gene:: KCMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85046132G>A, NC_000002.11:g.85273255G>A, NM_020122.5:c.455G>A, NM_020122.4:c.455G>A, XM_006712052.4:c.479G>A, XM_006712052.3:c.479G>A, XM_006712052.2:c.479G>A, XM_006712052.1:c.479G>A, XM_047445126.1:c.302G>A, NP_064507.3:p.Arg152His, XP_006712115.1:p.Arg160His, XP_047301082.1:p.Arg101His

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