Canonical Allele Identifier: CA400634840
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63964507C>G , CM000679.2:g.63964507C>G GRCh38
NC_000017.10:g.62041867C>G , CM000679.1:g.62041867C>G GRCh37
NC_000017.9:g.59395599C>G NCBI36
NG_011699.1:g.13412G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1413G>C MANE Select ENSP00000396320.1:p.Met471Ile
ENST00000578147.5:c.1413G>C ENSP00000463963.1:p.Met471Ile
NM_000334.4:c.1413G>C MANE Select NP_000325.4:p.Met471Ile
XM_005257566.3:c.1413G>C XP_005257623.1:p.Met471Ile
XR_934910.1:n.175-42C>G
XR_001752969.1:n.1452-42C>G
XR_001752970.1:n.404-42C>G
XR_934910.2:n.1327-42C>G