Canonical Allele Identifier: CA8709736

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324536
• ClinVar RCV Id: RCV000291002 ; RCV000311010 ; RCV000352135 ; RCV000345912 ; RCV000398737 ; RCV004544585
• dbSNP Id: rs141021600
• ExAC: 17:62038546 T / G
• gnomAD v2: 17-62038546-T-G
• gnomAD v3: 17-63961186-T-G
• gnomAD v4: 17-63961186-T-G
• MyVariant Identifiers: chr17:g.62038546T>G (hg19) ; chr17:g.63961186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961186T>G , CM000679.2:g.63961186T>G	GRCh38
NC_000017.10:g.62038546T>G , CM000679.1:g.62038546T>G	GRCh37
NC_000017.9:g.59392278T>G	NCBI36
NG_011699.1:g.16733A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1845+7A>C MANE Select	ENSP00000396320.1:n.1845+7A>C
ENST00000578147.5:c.1845+7A>C	ENSP00000463963.1:n.1845+7A>C
ENST00000581514.1:n.501+7A>C
NM_000334.4:c.1845+7A>C MANE Select	NP_000325.4:n.1845+7A>C
XM_005257566.3:c.1845+7A>C	XP_005257623.1:n.1845+7A>C
XR_934910.1:n.124+464T>G
XR_001752969.1:n.1276+464T>G
XR_934910.2:n.1276+464T>G