Canonical Allele Identifier: CA345718
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 143199
ClinVar RCV Id: RCV000132735 RCV000654671 RCV000763022 RCV001508991
dbSNP Id: rs527236148
gnomAD v2: 17-62048561-G-A
gnomAD v4: 17-63971201-G-A
MyVariant Identifiers: chr17:g.62048561G>A (hg19) chr17:g.63971201G>A (hg38)
PubMed: PMID:20301512
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971201G>A , CM000679.2:g.63971201G>A GRCh38
NC_000017.10:g.62048561G>A , CM000679.1:g.62048561G>A GRCh37
NC_000017.9:g.59402293G>A NCBI36
NG_011699.1:g.6718C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.664C>T MANE Select ENSP00000396320.1:p.Arg222Trp
ENST00000578147.5:c.664C>T ENSP00000463963.1:p.Arg222Trp
NM_000334.4:c.664C>T MANE Select NP_000325.4:p.Arg222Trp
XM_005257566.3:c.664C>T XP_005257623.1:p.Arg222Trp
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