Canonical Allele Identifier: CA245096

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 197134
• ClinVar RCV Id: RCV000286779 ; RCV000303252 ; RCV000399551 ; RCV000400438 ; RCV000713125 ; RCV000812584
• dbSNP Id: rs778661227
• ExAC: 17:62049140 C / T
• gnomAD v2: 17-62049140-C-T
• gnomAD v3: 17-63971780-C-T
• gnomAD v4: 17-63971780-C-T
• COSMIC: COSM982818
• MyVariant Identifiers: chr17:g.62049140C>T (hg19) ; chr17:g.63971780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971780C>T , CM000679.2:g.63971780C>T	GRCh38
NC_000017.10:g.62049140C>T , CM000679.1:g.62049140C>T	GRCh37
NC_000017.9:g.59402872C>T	NCBI36
NG_011699.1:g.6139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.553G>A MANE Select	ENSP00000396320.1:p.Asp185Asn
ENST00000578147.5:c.553G>A	ENSP00000463963.1:p.Asp185Asn
NM_000334.4:c.553G>A MANE Select	NP_000325.4:p.Asp185Asn
XM_005257566.3:c.553G>A	XP_005257623.1:p.Asp185Asn