Canonical Allele Identifier: CA1944980
Gene: SCN7A HGNC NCBI
COSMIC:
COSM4417346 (not active)
COSM4417347 (not active)
MyVariant.info:
GRCh38 chr2:g.166405843C>G
GRCh37 chr2:g.167262353C>G
Revel Score:
ENST00000409855 0.255
ENST00000259060 0.255
gnomAD v2:
2:167262353 C / G
gnomAD v3:
2:166405843 C / G
gnomAD v4:
chr2-166405843-C-G
Joint Max Group AF 0.16633989 (MID)
Genomes Max Group AF 0.12436338 (SAS)
Exomes Max Group AF 0.16806255 (MID)
ClinVar RCV:
RCV003974062
ClinVar Variation:
3057148
dbSNP:
3791251
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166405843C>G , CM000664.2:g.166405843C>G GRCh38
NC_000002.11:g.167262353C>G , CM000664.1:g.167262353C>G GRCh37
NC_000002.10:g.166970599C>G NCBI36
NG_031928.1:g.86129G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000441411.2:c.4786G>C ENSP00000403846.2:p.Val1596Leu
ENST00000643258.1:c.4786G>C MANE Select ENSP00000496114.1:p.Val1596Leu
ENST00000409855.5:c.4786G>C ENSP00000386796.1:p.Val1596Leu
ENST00000424326.5:c.*2591G>C ENSP00000396600.1:n.*2591G>C
ENST00000619410.4:c.4786G>C ENSP00000478562.1:p.Val1596Leu
ENST00000621965.4:c.4786G>C ENSP00000481734.1:p.Val1596Leu
NM_002976.3:c.4786G>C NP_002967.2:p.Val1596Leu
NR_045628.1:n.5010G>C
XM_006712680.1:c.4786G>C XP_006712743.1:p.Val1596Leu
XM_006712681.2:c.4786G>C XP_006712744.1:p.Val1596Leu
XM_006712682.2:c.4786G>C XP_006712745.1:p.Val1596Leu
XM_011511615.1:c.4786G>C XP_011509917.1:p.Val1596Leu
XM_006712680.2:c.4786G>C XP_006712743.1:p.Val1596Leu
XM_006712681.3:c.4786G>C XP_006712744.1:p.Val1596Leu
XM_006712682.3:c.4786G>C XP_006712745.1:p.Val1596Leu
XM_011511615.2:c.4786G>C XP_011509917.1:p.Val1596Leu
XM_017004667.1:c.4786G>C XP_016860156.1:p.Val1596Leu
NM_002976.4:c.4786G>C MANE Select NP_002967.2:p.Val1596Leu
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