Canonical Allele Identifier: CA145437
Gene: SCN10A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 89014
dbSNP Id: rs138404783

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752313A>G , CM000665.2:g.38752313A>G GRCh38
NC_000003.10:g.38768808A>G NCBI36
NC_000003.11:g.38793804A>G , CM000665.1:g.38793804A>G GRCh37
NG_031891.2:g.46698T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000449082.2:n.1661T>C ENSP00000390600.2:p.Leu554Pro
NM_001293306.2:n.1661T>C VV NP_001280235.2:p.Leu554Pro
NM_001293307.2:n.1462-2129T>C VV NP_001280236.2:p.=
NM_006514.3:n.1661T>C VV NP_006505.3:p.Leu554Pro
XM_005265371.2:n.1670T>C XP_005265428.1:p.Leu557Pro
XM_011533993.1:n.1670T>C XP_011532295.1:p.Leu557Pro
XM_011533994.1:n.1471-2129T>C XP_011532296.1:p.=