Canonical Allele Identifier: CA400612932
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018341C>G (hg19) chr17:g.63940981C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940981C>G , CM000679.2:g.63940981C>G GRCh38
NC_000017.10:g.62018341C>G , CM000679.1:g.62018341C>G GRCh37
NC_000017.9:g.59372073C>G NCBI36
NG_011699.1:g.36938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5301G>C MANE Select ENSP00000396320.1:p.Glu1767Asp
ENST00000578147.5:c.5301G>C ENSP00000463963.1:p.Glu1767Asp
NM_000334.4:c.5301G>C MANE Select NP_000325.4:p.Glu1767Asp
XM_005257566.3:c.5301G>C XP_005257623.1:p.Glu1767Asp
Search 100 bp 5'
Search 100 bp 3'