Canonical Allele Identifier: CA400618137
Gene: SCN4A HGNC NCBI

Linked Data

COSMIC: COSM6081751
MyVariant Identifiers: chr17:g.62022892G>A (hg19) chr17:g.63945532G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945532G>A , CM000679.2:g.63945532G>A GRCh38
NC_000017.10:g.62022892G>A , CM000679.1:g.62022892G>A GRCh37
NC_000017.9:g.59376624G>A NCBI36
NG_011699.1:g.32387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3548C>T MANE Select ENSP00000396320.1:p.Ala1183Val
ENST00000578147.5:c.3548C>T ENSP00000463963.1:p.Ala1183Val
NM_000334.4:c.3548C>T MANE Select NP_000325.4:p.Ala1183Val
XM_005257566.3:c.3548C>T XP_005257623.1:p.Ala1183Val
Search 100 bp 5'
Search 100 bp 3'