Canonical Allele Identifier: CA400613418
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63941069-T-C
MyVariant Identifiers: chr17:g.62018429T>C (hg19) chr17:g.63941069T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941069T>C , CM000679.2:g.63941069T>C GRCh38
NC_000017.10:g.62018429T>C , CM000679.1:g.62018429T>C GRCh37
NC_000017.9:g.59372161T>C NCBI36
NG_011699.1:g.36850A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5213A>G MANE Select ENSP00000396320.1:p.Tyr1738Cys
ENST00000578147.5:c.5213A>G ENSP00000463963.1:p.Tyr1738Cys
NM_000334.4:c.5213A>G MANE Select NP_000325.4:p.Tyr1738Cys
XM_005257566.3:c.5213A>G XP_005257623.1:p.Tyr1738Cys
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