Canonical Allele Identifier: CA501348346
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62019205C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941845C>T , CM000679.2:g.63941845C>T GRCh38
NC_000017.10:g.62019205C>T , CM000679.1:g.62019205C>T GRCh37
NC_000017.9:g.59372937C>T NCBI36
NG_011699.1:g.36074G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4437G>A MANE Select ENSP00000396320.1:p.Leu1479=
ENST00000578147.5:c.4437G>A ENSP00000463963.1:p.Leu1479=
NM_000334.4:c.4437G>A MANE Select NP_000325.4:p.Leu1479=
XM_005257566.3:c.4437G>A XP_005257623.1:p.Leu1479=