Canonical Allele Identifier: CA400614242
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941222A>G , CM000679.2:g.63941222A>G GRCh38
NC_000017.10:g.62018582A>G , CM000679.1:g.62018582A>G GRCh37
NC_000017.9:g.59372314A>G NCBI36
NG_011699.1:g.36697T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5060T>C MANE Select ENSP00000396320.1:p.Val1687Ala
ENST00000578147.5:c.5060T>C ENSP00000463963.1:p.Val1687Ala
NM_000334.4:c.5060T>C MANE Select NP_000325.4:p.Val1687Ala
XM_005257566.3:c.5060T>C XP_005257623.1:p.Val1687Ala