Canonical Allele Identifier: CA400612912
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1253549724

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940973C>A , CM000679.2:g.63940973C>A GRCh38
NC_000017.10:g.62018333C>A , CM000679.1:g.62018333C>A GRCh37
NC_000017.9:g.59372065C>A NCBI36
NG_011699.1:g.36946G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5309G>T MANE Select ENSP00000396320.1:p.Gly1770Val
ENST00000578147.5:c.5309G>T ENSP00000463963.1:p.Gly1770Val
NM_000334.4:c.5309G>T MANE Select NP_000325.4:p.Gly1770Val
XM_005257566.3:c.5309G>T XP_005257623.1:p.Gly1770Val