Canonical Allele Identifier: CA400614995
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 995247
ClinVar RCV Id: RCV001289202
dbSNP Id: rs1908530350
MyVariant Identifiers: chr17:g.62018864T>A (hg19) chr17:g.63941504T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941504T>A , CM000679.2:g.63941504T>A GRCh38
NC_000017.10:g.62018864T>A , CM000679.1:g.62018864T>A GRCh37
NC_000017.9:g.59372596T>A NCBI36
NG_011699.1:g.36415A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4778A>T MANE Select ENSP00000396320.1:p.Tyr1593Phe
ENST00000578147.5:c.4778A>T ENSP00000463963.1:p.Tyr1593Phe
NM_000334.4:c.4778A>T MANE Select NP_000325.4:p.Tyr1593Phe
XM_005257566.3:c.4778A>T XP_005257623.1:p.Tyr1593Phe
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