Canonical Allele Identifier: CA501225690
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1909169777
gnomAD v4: 17-63959277-G-A
MyVariant Identifiers: chr17:g.62036637G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959277G>A , CM000679.2:g.63959277G>A GRCh38
NC_000017.10:g.62036637G>A , CM000679.1:g.62036637G>A GRCh37
NC_000017.9:g.59390369G>A NCBI36
NG_011699.1:g.18642C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2007C>T MANE Select ENSP00000396320.1:p.Arg669=
ENST00000578147.5:c.2007C>T ENSP00000463963.1:p.Arg669=
NM_000334.4:c.2007C>T MANE Select NP_000325.4:p.Arg669=
XM_005257566.3:c.2007C>T XP_005257623.1:p.Arg669=
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