Canonical Allele Identifier: CA8708921
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324516
dbSNP Id: rs751454852

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941615T>C , CM000679.2:g.63941615T>C GRCh38
NC_000017.10:g.62018975T>C , CM000679.1:g.62018975T>C GRCh37
NC_000017.9:g.59372707T>C NCBI36
NG_011699.1:g.36304A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4667A>G MANE Select ENSP00000396320.1:p.Asn1556Ser
ENST00000578147.5:c.4667A>G ENSP00000463963.1:p.Asn1556Ser
NM_000334.4:c.4667A>G MANE Select NP_000325.4:p.Asn1556Ser
XM_005257566.3:c.4667A>G XP_005257623.1:p.Asn1556Ser