Canonical Allele Identifier: CA501225444
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62034696G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63957336G>T , CM000679.2:g.63957336G>T GRCh38
NC_000017.10:g.62034696G>T , CM000679.1:g.62034696G>T GRCh37
NC_000017.9:g.59388428G>T NCBI36
NG_011699.1:g.20583C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2202C>A MANE Select ENSP00000396320.1:p.Ala734=
ENST00000578147.5:c.2202C>A ENSP00000463963.1:p.Ala734=
NM_000334.4:c.2202C>A MANE Select NP_000325.4:p.Ala734=
XM_005257566.3:c.2202C>A XP_005257623.1:p.Ala734=
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