Canonical Allele Identifier: CA2320282
Gene: SCN10A HGNC NCBI

Linked Data

ClinVar Variation Id: 259997
ClinVar RCV Id: RCV000253983
dbSNP Id: rs12632942

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38723507A>G , CM000665.2:g.38723507A>G GRCh38
NC_000003.11:g.38764998A>G , CM000665.1:g.38764998A>G GRCh37
NC_000003.10:g.38740002A>G NCBI36
NG_031891.2:g.75504T>C

Transcript Alleles

HGVS Amino-acid change
NM_001293306.2:n.3272T>C NP_001280235.2:p.Leu1091Pro
NM_001293307.2:n.2981T>C NP_001280236.2:p.Leu994Pro
NM_006514.3:n.3275T>C NP_006505.3:p.Leu1092Pro
XM_005265371.2:n.3284T>C XP_005265428.1:p.Leu1095Pro
XM_011533993.1:n.3281T>C XP_011532295.1:p.Leu1094Pro
XM_011533994.1:n.2990T>C XP_011532296.1:p.Leu997Pro
XM_005265371.3:n.3284T>C XP_005265428.1:p.Leu1095Pro
XM_011533993.2:n.3281T>C XP_011532295.1:p.Leu1094Pro
XM_011533994.2:n.2990T>C XP_011532296.1:p.Leu997Pro
NM_006514.4:c.3275T>C NP_006505.4:p.Leu1092Pro
ENST00000449082.2:n.3275T>C ENSP00000390600.2:p.Leu1092Pro