Canonical Allele Identifier: CA400617846
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63945440-G-A
MyVariant Identifiers: chr17:g.62022800G>A (hg19) chr17:g.63945440G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945440G>A , CM000679.2:g.63945440G>A GRCh38
NC_000017.10:g.62022800G>A , CM000679.1:g.62022800G>A GRCh37
NC_000017.9:g.59376532G>A NCBI36
NG_011699.1:g.32479C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3640C>T MANE Select ENSP00000396320.1:p.His1214Tyr
ENST00000578147.5:c.3640C>T ENSP00000463963.1:p.His1214Tyr
NM_000334.4:c.3640C>T MANE Select NP_000325.4:p.His1214Tyr
XM_005257566.3:c.3640C>T XP_005257623.1:p.His1214Tyr
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