Canonical Allele Identifier: CA8710313

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324555
• ClinVar RCV Id: RCV000286537 ; RCV000289842 ; RCV000344781 ; RCV000384345 ; RCV000395817 ; RCV002254922
• dbSNP Id: rs565414568
• ExAC: 17:62050205 C / T
• gnomAD v2: 17-62050205-C-T
• gnomAD v3: 17-63972845-C-T
• gnomAD v4: 17-63972845-C-T
• MyVariant Identifiers: chr17:g.62050205C>T (hg19) ; chr17:g.63972845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972845C>T , CM000679.2:g.63972845C>T	GRCh38
NC_000017.10:g.62050205C>T , CM000679.1:g.62050205C>T	GRCh37
NC_000017.9:g.59403937C>T	NCBI36
NG_011699.1:g.5074G>A

Transcript Alleles

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