Canonical Allele Identifier: CA292972691

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 2910281
• ClinVar RCV Id: RCV003615630
• dbSNP Id: rs1046930065
• gnomAD v2: 17-62049143-C-T
• gnomAD v3: 17-63971783-C-T
• gnomAD v4: 17-63971783-C-T
• MyVariant Identifiers: chr17:g.62049143C>T (hg19) ; chr17:g.63971783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971783C>T , CM000679.2:g.63971783C>T	GRCh38
NC_000017.10:g.62049143C>T , CM000679.1:g.62049143C>T	GRCh37
NC_000017.9:g.59402875C>T	NCBI36
NG_011699.1:g.6136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.550G>A MANE Select	ENSP00000396320.1:p.Asp184Asn
ENST00000578147.5:c.550G>A	ENSP00000463963.1:p.Asp184Asn
NM_000334.4:c.550G>A MANE Select	NP_000325.4:p.Asp184Asn
XM_005257566.3:c.550G>A	XP_005257623.1:p.Asp184Asn