SNP Links for Protein (Select 261878556) - SNP

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:2513216 (GRCh38)
7:2552850 (GRCh37)
Canonical SPDI:: NC_000007.14:2513215:A:C
Gene:: LFNG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2513216A>C, NC_000007.13:g.2552850A>C, NG_008109.2:g.5688A>C, NM_001166355.2:c.107A>C, NM_001166355.1:c.107A>C, NP_001159827.1:p.Lys36Thr

Select item 143883103314.

rs1438831033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2526902 (GRCh38)
7:2566536 (GRCh37)
Canonical SPDI:: NC_000007.14:2526901:G:A
Gene:: LFNG (Varview), MIR4648 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.2526902G>A, NC_000007.13:g.2566536G>A, NG_008109.2:g.19374G>A, NM_002304.3:c.667G>A, NM_002304.2:c.667G>A, NM_001040167.2:c.1054G>A, NM_001040167.1:c.1054G>A, NM_001166355.2:c.841G>A, NM_001166355.1:c.841G>A, NM_001040168.2:c.1054G>A, NM_001040168.1:c.1054G>A, NP_002295.1:p.Val223Met, NP_001035257.1:p.Val352Met, NP_001159827.1:p.Val281Met, NP_001035258.1:p.Val352Met

Select item 143742747615.

rs1437427476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2525715 (GRCh38)
7:2565349 (GRCh37)
Canonical SPDI:: NC_000007.14:2525714:G:A
Gene:: LFNG (Varview), MIR4648 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.2525715G>A, NC_000007.13:g.2565349G>A, NG_008109.2:g.18187G>A, NM_002304.3:c.379G>A, NM_002304.2:c.379G>A, NM_001040167.2:c.766G>A, NM_001040167.1:c.766G>A, NM_001166355.2:c.553G>A, NM_001166355.1:c.553G>A, NM_001040168.2:c.766G>A, NM_001040168.1:c.766G>A, NP_002295.1:p.Gly127Ser, NP_001035257.1:p.Gly256Ser, NP_001159827.1:p.Gly185Ser, NP_001035258.1:p.Gly256Ser

Select item 143354500116.

rs1433545001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:2525459 (GRCh38)
7:2565093 (GRCh37)
Canonical SPDI:: NC_000007.14:2525458:C:T
Gene:: LFNG (Varview), MIR4648 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2525459C>T, NC_000007.13:g.2565093C>T, NG_008109.2:g.17931C>T, NM_002304.3:c.240C>T, NM_002304.2:c.240C>T, NM_001040167.2:c.627C>T, NM_001040167.1:c.627C>T, NM_001166355.2:c.414C>T, NM_001166355.1:c.414C>T, NM_001040168.2:c.627C>T, NM_001040168.1:c.627C>T

Select item 142949517717.

rs1429495177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:2527170 (GRCh38)
7:2566804 (GRCh37)
Canonical SPDI:: NC_000007.14:2527169:G:A,NC_000007.14:2527169:G:C
Gene:: LFNG (Varview), MIR4648 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.2527170G>A, NC_000007.14:g.2527170G>C, NC_000007.13:g.2566804G>A, NC_000007.13:g.2566804G>C, NG_008109.2:g.19642G>A, NG_008109.2:g.19642G>C, NM_002304.3:c.711G>A, NM_002304.3:c.711G>C, NM_002304.2:c.711G>A, NM_002304.2:c.711G>C, NM_001040167.2:c.1098G>A, NM_001040167.2:c.1098G>C, NM_001040167.1:c.1098G>A, NM_001040167.1:c.1098G>C, NM_001166355.2:c.885G>A, NM_001166355.2:c.885G>C, NM_001166355.1:c.885G>A, NM_001166355.1:c.885G>C

Select item 142911886518.

rs1429118865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2524715 (GRCh38)
7:2564349 (GRCh37)
Canonical SPDI:: NC_000007.14:2524714:G:A
Gene:: LFNG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.2524715G>A, NC_000007.13:g.2564349G>A, NG_008109.2:g.17187G>A, NM_002304.3:c.66G>A, NM_002304.2:c.66G>A, NM_001040167.2:c.453G>A, NM_001040167.1:c.453G>A, NM_001166355.2:c.240G>A, NM_001166355.1:c.240G>A, NM_001040168.2:c.453G>A, NM_001040168.1:c.453G>A

Select item 142834148019.

rs1428341480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:2513171 (GRCh38)
7:2552805 (GRCh37)
Canonical SPDI:: NC_000007.14:2513170:G:A
Gene:: LFNG (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.2513171G>A, NC_000007.13:g.2552805G>A, NG_008109.2:g.5643G>A, NM_001166355.2:c.62G>A, NM_001166355.1:c.62G>A, NP_001159827.1:p.Trp21Ter

Select item 141670668620.

rs1416706686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:2513247 (GRCh38)
7:2552881 (GRCh37)
Canonical SPDI:: NC_000007.14:2513246:A:G
Gene:: LFNG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00006/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/1 (ExAC)
G=0.003422/10 (KOREAN)
HGVS:: NC_000007.14:g.2513247A>G, NC_000007.13:g.2552881A>G, NG_008109.2:g.5719A>G, NM_001166355.2:c.138A>G, NM_001166355.1:c.138A>G

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