Canonical Allele Identifier: CA352156852
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs1368790006
gnomAD v2: 3-38766801-T-C
gnomAD v4: 3-38725310-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725310T>C , CM000665.2:g.38725310T>C GRCh38
NC_000003.11:g.38766801T>C , CM000665.1:g.38766801T>C GRCh37
NC_000003.10:g.38741805T>C NCBI36
NG_031891.2:g.73701A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3092A>G MANE Select ENSP00000390600.2:p.Glu1031Gly
ENST00000643924.1:c.3089A>G ENSP00000495595.1:p.Glu1030Gly
ENST00000655275.1:c.3116A>G ENSP00000499510.1:p.Glu1039Gly
ENST00000449082.2:c.3092A>G ENSP00000390600.2:p.Glu1031Gly
NM_001293306.2:c.3089A>G NP_001280235.2:p.Glu1030Gly
NM_001293307.2:c.2798A>G NP_001280236.2:p.Glu933Gly
NM_006514.3:c.3092A>G NP_006505.3:p.Glu1031Gly
XM_005265371.2:c.3101A>G XP_005265428.1:p.Glu1034Gly
XM_011533993.1:c.3098A>G XP_011532295.1:p.Glu1033Gly
XM_011533994.1:c.2807A>G XP_011532296.1:p.Glu936Gly
XM_005265371.3:c.3101A>G XP_005265428.1:p.Glu1034Gly
XM_011533993.2:c.3098A>G XP_011532295.1:p.Glu1033Gly
XM_011533994.2:c.2807A>G XP_011532296.1:p.Glu936Gly
NM_006514.4:c.3092A>G MANE Select NP_006505.4:p.Glu1031Gly