Canonical Allele Identifier: CA8709459

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324526
• ClinVar RCV Id: RCV000303501 ; RCV000307091 ; RCV000346621 ; RCV000364129 ; RCV000392040
• dbSNP Id: rs375375167
• ExAC: 17:62026880 C / T
• gnomAD v2: 17-62026880-C-T
• gnomAD v3: 17-63949520-C-T
• gnomAD v4: 17-63949520-C-T
• MyVariant Identifiers: chr17:g.62026880C>T (hg19) ; chr17:g.63949520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63949520C>T , CM000679.2:g.63949520C>T	GRCh38
NC_000017.10:g.62026880C>T , CM000679.1:g.62026880C>T	GRCh37
NC_000017.9:g.59380612C>T	NCBI36
NG_011699.1:g.28399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2862G>A MANE Select	ENSP00000396320.1:p.Pro954=
ENST00000578147.5:c.2862G>A	ENSP00000463963.1:p.Pro954=
ENST00000584310.1:n.185G>A
NM_000334.4:c.2862G>A MANE Select	NP_000325.4:p.Pro954=
XM_005257566.3:c.2862G>A	XP_005257623.1:p.Pro954=