Canonical Allele Identifier: CA72959936
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs955041202
gnomAD v3: 3-38725899-G-A
gnomAD v4: 3-38725899-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725899G>A , CM000665.2:g.38725899G>A GRCh38
NC_000003.11:g.38767390G>A , CM000665.1:g.38767390G>A GRCh37
NC_000003.10:g.38742394G>A NCBI36
NG_031891.2:g.73112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3088-585C>T MANE Select ENSP00000390600.2:n.3088-585C>T
ENST00000643924.1:c.3088-588C>T ENSP00000495595.1:n.3088-588C>T
ENST00000655275.1:c.3115-588C>T ENSP00000499510.1:n.3115-588C>T
ENST00000449082.2:c.3088-585C>T ENSP00000390600.2:n.3088-585C>T
NM_001293306.2:c.3088-588C>T NP_001280235.2:n.3088-588C>T
NM_001293307.2:c.2794-585C>T NP_001280236.2:n.2794-585C>T
NM_006514.3:c.3088-585C>T NP_006505.3:n.3088-585C>T
XM_005265371.2:c.3097-585C>T XP_005265428.1:n.3097-585C>T
XM_011533993.1:c.3097-588C>T XP_011532295.1:n.3097-588C>T
XM_011533994.1:c.2803-585C>T XP_011532296.1:n.2803-585C>T
XM_005265371.3:c.3097-585C>T XP_005265428.1:n.3097-585C>T
XM_011533993.2:c.3097-588C>T XP_011532295.1:n.3097-588C>T
XM_011533994.2:c.2803-585C>T XP_011532296.1:n.2803-585C>T
NM_006514.4:c.3088-585C>T MANE Select NP_006505.4:n.3088-585C>T