Canonical Allele Identifier: CA501347853
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1473905644
gnomAD v2: 17-62018362-G-C
gnomAD v4: 17-63941002-G-C
MyVariant Identifiers: chr17:g.62018362G>C (hg19) chr17:g.63941002G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941002G>C , CM000679.2:g.63941002G>C GRCh38
NC_000017.10:g.62018362G>C , CM000679.1:g.62018362G>C GRCh37
NC_000017.9:g.59372094G>C NCBI36
NG_011699.1:g.36917C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5280C>G MANE Select ENSP00000396320.1:p.Gly1760=
ENST00000578147.5:c.5280C>G ENSP00000463963.1:p.Gly1760=
NM_000334.4:c.5280C>G MANE Select NP_000325.4:p.Gly1760=
XM_005257566.3:c.5280C>G XP_005257623.1:p.Gly1760=
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