Canonical Allele Identifier: CA8709798

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324539
• ClinVar RCV Id: RCV000291355 ; RCV000325619 ; RCV000329956 ; RCV000384873 ; RCV000386753
• dbSNP Id: rs747479565
• ExAC: 17:62041044 C / T
• gnomAD v2: 17-62041044-C-T
• gnomAD v3: 17-63963684-C-T
• gnomAD v4: 17-63963684-C-T
• MyVariant Identifiers: chr17:g.62041044C>T (hg19) ; chr17:g.63963684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63963684C>T , CM000679.2:g.63963684C>T	GRCh38
NC_000017.10:g.62041044C>T , CM000679.1:g.62041044C>T	GRCh37
NC_000017.9:g.59394776C>T	NCBI36
NG_011699.1:g.14235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1594G>A MANE Select	ENSP00000396320.1:p.Asp532Asn
ENST00000578147.5:c.1594G>A	ENSP00000463963.1:p.Asp532Asn
NM_000334.4:c.1594G>A MANE Select	NP_000325.4:p.Asp532Asn
XM_005257566.3:c.1594G>A	XP_005257623.1:p.Asp532Asn
XR_934910.1:n.174+370C>T
XR_001752969.1:n.1326+370C>T
XR_001752970.1:n.278+370C>T
XR_934910.2:n.1326+370C>T