Canonical Allele Identifier: CA501347951
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018830G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941470G>A , CM000679.2:g.63941470G>A GRCh38
NC_000017.10:g.62018830G>A , CM000679.1:g.62018830G>A GRCh37
NC_000017.9:g.59372562G>A NCBI36
NG_011699.1:g.36449C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4812C>T MANE Select ENSP00000396320.1:p.Ala1604=
ENST00000578147.5:c.4812C>T ENSP00000463963.1:p.Ala1604=
NM_000334.4:c.4812C>T MANE Select NP_000325.4:p.Ala1604=
XM_005257566.3:c.4812C>T XP_005257623.1:p.Ala1604=