Canonical Allele Identifier: CA1946017
Gene: SCN7A HGNC NCBI
COSMIC:
COSM4001301 (not active)
COSM4001302 (not active)
MyVariant.info:
GRCh38 chr2:g.166477575G>T
GRCh37 chr2:g.167334085G>T
Revel Score:
ENST00000409855 0.203
ENST00000259060 0.203
ENST00000419992 0.203
ENST00000441411 0.203
gnomAD v2:
2:167334085 G / T
gnomAD v3:
2:166477575 G / T
gnomAD v4:
chr2-166477575-G-T
Joint Max Group AF 0.74235218 (AFR)
Genomes Max Group AF 0.74021688 (AFR)
Exomes Max Group AF 0.74020705 (AFR)
ClinVar RCV:
RCV003982223
ClinVar Variation:
3060194
dbSNP:
7565062
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166477575G>T , CM000664.2:g.166477575G>T GRCh38
NC_000002.11:g.167334085G>T , CM000664.1:g.167334085G>T GRCh37
NC_000002.10:g.167042331G>T NCBI36
NG_031928.1:g.14397C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419992.6:c.122C>A ENSP00000413699.2:p.Thr41Asn
ENST00000441411.2:c.122C>A ENSP00000403846.2:p.Thr41Asn
ENST00000643258.1:c.122C>A MANE Select ENSP00000496114.1:p.Thr41Asn
ENST00000650747.1:c.122C>A ENSP00000498959.1:p.Thr41Asn
ENST00000409855.5:c.122C>A ENSP00000386796.1:p.Thr41Asn
ENST00000419992.5:c.122C>A ENSP00000413699.1:p.Thr41Asn
ENST00000424326.5:c.122C>A ENSP00000396600.1:p.Thr41Asn
ENST00000441411.1:c.122C>A ENSP00000403846.1:p.Thr41Asn
ENST00000619410.4:c.122C>A ENSP00000478562.1:p.Thr41Asn
ENST00000621965.4:c.122C>A ENSP00000481734.1:p.Thr41Asn
NM_002976.3:c.122C>A NP_002967.2:p.Thr41Asn
NR_045628.1:n.252C>A
XM_006712680.1:c.122C>A XP_006712743.1:p.Thr41Asn
XM_006712681.2:c.122C>A XP_006712744.1:p.Thr41Asn
XM_006712682.2:c.122C>A XP_006712745.1:p.Thr41Asn
XM_011511615.1:c.122C>A XP_011509917.1:p.Thr41Asn
XM_006712680.2:c.122C>A XP_006712743.1:p.Thr41Asn
XM_006712681.3:c.122C>A XP_006712744.1:p.Thr41Asn
XM_006712682.3:c.122C>A XP_006712745.1:p.Thr41Asn
XM_011511615.2:c.122C>A XP_011509917.1:p.Thr41Asn
XM_017004667.1:c.122C>A XP_016860156.1:p.Thr41Asn
NM_002976.4:c.122C>A MANE Select NP_002967.2:p.Thr41Asn
Search 100 bp 5'
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