Canonical Allele Identifier: CA400615943
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63941805-T-A
MyVariant Identifiers: chr17:g.62019165T>A (hg19) chr17:g.63941805T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941805T>A , CM000679.2:g.63941805T>A GRCh38
NC_000017.10:g.62019165T>A , CM000679.1:g.62019165T>A GRCh37
NC_000017.9:g.59372897T>A NCBI36
NG_011699.1:g.36114A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4477A>T MANE Select ENSP00000396320.1:p.Met1493Leu
ENST00000578147.5:c.4477A>T ENSP00000463963.1:p.Met1493Leu
NM_000334.4:c.4477A>T MANE Select NP_000325.4:p.Met1493Leu
XM_005257566.3:c.4477A>T XP_005257623.1:p.Met1493Leu
Search 100 bp 5'
Search 100 bp 3'