Canonical Allele Identifier: CA2270162655
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945516G= , CM000679.2:g.63945516G= GRCh38
NC_000017.10:g.62022876G= , CM000679.1:g.62022876G= GRCh37
NC_000017.9:g.59376608G= NCBI36
NG_011699.1:g.32403C=

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3564C= MANE Select ENSP00000396320.1:p.Tyr1188=
ENST00000578147.5:c.3564C= ENSP00000463963.1:p.Tyr1188=
NM_000334.4:c.3564C= MANE Select NP_000325.4:p.Tyr1188=
XM_005257566.3:c.3564C= XP_005257623.1:p.Tyr1188=