Canonical Allele Identifier: CA400618204
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1448078735
gnomAD v3: 17-63945547-C-G
gnomAD v4: 17-63945547-C-G
MyVariant Identifiers: chr17:g.62022907C>G (hg19) chr17:g.63945547C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945547C>G , CM000679.2:g.63945547C>G GRCh38
NC_000017.10:g.62022907C>G , CM000679.1:g.62022907C>G GRCh37
NC_000017.9:g.59376639C>G NCBI36
NG_011699.1:g.32372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3533G>C MANE Select ENSP00000396320.1:p.Gly1178Ala
ENST00000578147.5:c.3533G>C ENSP00000463963.1:p.Gly1178Ala
NM_000334.4:c.3533G>C MANE Select NP_000325.4:p.Gly1178Ala
XM_005257566.3:c.3533G>C XP_005257623.1:p.Gly1178Ala
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