Canonical Allele Identifier: CA2320540
Gene: SCN10A HGNC NCBI

Linked Data

ClinVar Variation Id: 225464
dbSNP Id: rs763084100
gnomAD v2: 3-38770224-G-A
gnomAD v3: 3-38728733-G-A
gnomAD v4: 3-38728733-G-A
COSMIC: COSM79043

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38728733G>A , CM000665.2:g.38728733G>A GRCh38
NC_000003.11:g.38770224G>A , CM000665.1:g.38770224G>A GRCh37
NC_000003.10:g.38745228G>A NCBI36
NG_031891.2:g.70278C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.2449C>T MANE Select ENSP00000390600.2:p.Arg817Ter
ENST00000643924.1:c.2449C>T ENSP00000495595.1:p.Arg817Ter
ENST00000655275.1:c.2476C>T ENSP00000499510.1:p.Arg826Ter
ENST00000449082.2:c.2449C>T ENSP00000390600.2:p.Arg817Ter
NM_001293306.2:c.2449C>T NP_001280235.2:p.Arg817Ter
NM_001293307.2:c.2155C>T NP_001280236.2:p.Arg719Ter
NM_006514.3:c.2449C>T NP_006505.3:p.Arg817Ter
XM_005265371.2:c.2458C>T XP_005265428.1:p.Arg820Ter
XM_011533993.1:c.2458C>T XP_011532295.1:p.Arg820Ter
XM_011533994.1:c.2164C>T XP_011532296.1:p.Arg722Ter
XM_005265371.3:c.2458C>T XP_005265428.1:p.Arg820Ter
XM_011533993.2:c.2458C>T XP_011532295.1:p.Arg820Ter
XM_011533994.2:c.2164C>T XP_011532296.1:p.Arg722Ter
NM_006514.4:c.2449C>T MANE Select NP_006505.4:p.Arg817Ter