Canonical Allele Identifier: CA501348677
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62022873G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945513G>A , CM000679.2:g.63945513G>A GRCh38
NC_000017.10:g.62022873G>A , CM000679.1:g.62022873G>A GRCh37
NC_000017.9:g.59376605G>A NCBI36
NG_011699.1:g.32406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3567C>T MANE Select ENSP00000396320.1:p.Cys1189=
ENST00000578147.5:c.3567C>T ENSP00000463963.1:p.Cys1189=
NM_000334.4:c.3567C>T MANE Select NP_000325.4:p.Cys1189=
XM_005257566.3:c.3567C>T XP_005257623.1:p.Cys1189=