Canonical Allele Identifier: CA400616227
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62019320A>T (hg19) chr17:g.63941960A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941960A>T , CM000679.2:g.63941960A>T GRCh38
NC_000017.10:g.62019320A>T , CM000679.1:g.62019320A>T GRCh37
NC_000017.9:g.59373052A>T NCBI36
NG_011699.1:g.35959T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4322T>A MANE Select ENSP00000396320.1:p.Phe1441Tyr
ENST00000578147.5:c.4322T>A ENSP00000463963.1:p.Phe1441Tyr
NM_000334.4:c.4322T>A MANE Select NP_000325.4:p.Phe1441Tyr
XM_005257566.3:c.4322T>A XP_005257623.1:p.Phe1441Tyr
Search 100 bp 5'
Search 100 bp 3'