Canonical Allele Identifier: CA11403340
Gene: SCN10A HGNC NCBI

Linked Data

ClinVar Variation Id: 1165939
dbSNP Id: rs6801957

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725824T>C , CM000665.2:g.38725824T>C GRCh38
NC_000003.11:g.38767315T>C , CM000665.1:g.38767315T>C GRCh37
NC_000003.10:g.38742319T>C NCBI36
NG_031891.2:g.73187A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000449082.3:c.3088-510A>G MANE Select ENSP00000390600.2:p.=
ENST00000643924.1:c.3088-513A>G ENSP00000495595.1:p.=
ENST00000655275.1:c.3115-513A>G ENSP00000499510.1:p.=
ENST00000449082.2:n.3088-510A>G ENSP00000390600.2:p.=
NM_001293306.2:n.3088-513A>G NP_001280235.2:p.=
NM_001293307.2:n.2794-510A>G NP_001280236.2:p.=
NM_006514.3:n.3088-510A>G NP_006505.3:p.=
XM_005265371.2:n.3097-510A>G XP_005265428.1:p.=
XM_011533993.1:n.3097-513A>G XP_011532295.1:p.=
XM_011533994.1:n.2803-510A>G XP_011532296.1:p.=
XM_005265371.3:n.3097-510A>G XP_005265428.1:p.=
XM_011533993.2:n.3097-513A>G XP_011532295.1:p.=
XM_011533994.2:n.2803-510A>G XP_011532296.1:p.=
NM_006514.4:c.3088-510A>G MANE Select NP_006505.4:p.=