Canonical Allele Identifier: CA8708901
Community Standard Title: NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
Gene: SCN4A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941499C>T , CM000679.2:g.63941499C>T GRCh38
NC_000017.10:g.62018859C>T , CM000679.1:g.62018859C>T GRCh37
NC_000017.9:g.59372591C>T NCBI36
NG_011699.1:g.36420G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.4783G>A MANE Select NP_000325.4:p.Ala1595Thr
ENST00000435607.3:c.4783G>A MANE Select ENSP00000396320.1:p.Ala1595Thr
ENST00000578147.5:c.4783G>A ENSP00000463963.1:p.Ala1595Thr
XM_005257566.3:c.4783G>A XP_005257623.1:p.Ala1595Thr
Search 100 bp 5'
Search 100 bp 3'