Canonical Allele Identifier: CA400637858
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62045694G>A (hg19) chr17:g.63968334G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63968334G>A , CM000679.2:g.63968334G>A GRCh38
NC_000017.10:g.62045694G>A , CM000679.1:g.62045694G>A GRCh37
NC_000017.9:g.59399426G>A NCBI36
NG_011699.1:g.9585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.725C>T MANE Select ENSP00000396320.1:p.Ala242Val
ENST00000578147.5:c.725C>T ENSP00000463963.1:p.Ala242Val
NM_000334.4:c.725C>T MANE Select NP_000325.4:p.Ala242Val
XM_005257566.3:c.725C>T XP_005257623.1:p.Ala242Val
Search 100 bp 5'
Search 100 bp 3'