Canonical Allele Identifier: CA400620780
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62024512A>C (hg19) chr17:g.63947152A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947152A>C , CM000679.2:g.63947152A>C GRCh38
NC_000017.10:g.62024512A>C , CM000679.1:g.62024512A>C GRCh37
NC_000017.9:g.59378244A>C NCBI36
NG_011699.1:g.30767T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3334T>G MANE Select ENSP00000396320.1:p.Leu1112Val
ENST00000578147.5:c.3334T>G ENSP00000463963.1:p.Leu1112Val
NM_000334.4:c.3334T>G MANE Select NP_000325.4:p.Leu1112Val
XM_005257566.3:c.3334T>G XP_005257623.1:p.Leu1112Val
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