Canonical Allele Identifier: CA2320540
Gene: SCN10A HGNC NCBI
COSMIC:
COSM79043
MyVariant.info:
GRCh38 chr3:g.38728733G>A
GRCh37 chr3:g.38770224G>A
gnomAD v2:
3:38770224 G / A
gnomAD v3:
3:38728733 G / A
gnomAD v4:
chr3-38728733-G-A
Joint Max Group AF 0.00000763 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
ClinVar Allele:
227259
ClinVar RCV:
RCV000490406
RCV001853391
ClinVar Variation:
225464
dbSNP:
763084100
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'