Canonical Allele Identifier: CA400613183
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941025T>A , CM000679.2:g.63941025T>A GRCh38
NC_000017.10:g.62018385T>A , CM000679.1:g.62018385T>A GRCh37
NC_000017.9:g.59372117T>A NCBI36
NG_011699.1:g.36894A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5257A>T MANE Select ENSP00000396320.1:p.Met1753Leu
ENST00000578147.5:c.5257A>T ENSP00000463963.1:p.Met1753Leu
NM_000334.4:c.5257A>T MANE Select NP_000325.4:p.Met1753Leu
XM_005257566.3:c.5257A>T XP_005257623.1:p.Met1753Leu