Canonical Allele Identifier: CA292956342
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1015807829
MyVariant Identifiers: chr17:g.62018367C>A (hg19) chr17:g.63941007C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941007C>A , CM000679.2:g.63941007C>A GRCh38
NC_000017.10:g.62018367C>A , CM000679.1:g.62018367C>A GRCh37
NC_000017.9:g.59372099C>A NCBI36
NG_011699.1:g.36912G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5275G>T MANE Select ENSP00000396320.1:p.Asp1759Tyr
ENST00000578147.5:c.5275G>T ENSP00000463963.1:p.Asp1759Tyr
NM_000334.4:c.5275G>T MANE Select NP_000325.4:p.Asp1759Tyr
XM_005257566.3:c.5275G>T XP_005257623.1:p.Asp1759Tyr
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