Canonical Allele Identifier: CA400620764
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1390055582
gnomAD v4: 17-63947149-C-T
MyVariant Identifiers: chr17:g.62024509C>T (hg19) chr17:g.63947149C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947149C>T , CM000679.2:g.63947149C>T GRCh38
NC_000017.10:g.62024509C>T , CM000679.1:g.62024509C>T GRCh37
NC_000017.9:g.59378241C>T NCBI36
NG_011699.1:g.30770G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3337G>A MANE Select ENSP00000396320.1:p.Val1113Met
ENST00000578147.5:c.3337G>A ENSP00000463963.1:p.Val1113Met
NM_000334.4:c.3337G>A MANE Select NP_000325.4:p.Val1113Met
XM_005257566.3:c.3337G>A XP_005257623.1:p.Val1113Met
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