Canonical Allele Identifier: CA8709386

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324524
• ClinVar RCV Id: RCV000298316 ; RCV000301675 ; RCV000341585 ; RCV000393109 ; RCV000479192 ; RCV000697130 ; RCV000766442 ; RCV002523001
• dbSNP Id: rs759982229
• ExAC: 17:62025979 C / A
• gnomAD v2: 17-62025979-C-A
• gnomAD v3: 17-63948619-C-A
• gnomAD v4: 17-63948619-C-A
• MyVariant Identifiers: chr17:g.62025979C>A (hg19) ; chr17:g.63948619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63948619C>A , CM000679.2:g.63948619C>A	GRCh38
NC_000017.10:g.62025979C>A , CM000679.1:g.62025979C>A	GRCh37
NC_000017.9:g.59379711C>A	NCBI36
NG_011699.1:g.29300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3136G>T MANE Select	ENSP00000396320.1:p.Gly1046Trp
ENST00000578147.5:c.3136G>T	ENSP00000463963.1:p.Gly1046Trp
ENST00000584310.1:n.459G>T
NM_000334.4:c.3136G>T MANE Select	NP_000325.4:p.Gly1046Trp
XM_005257566.3:c.3136G>T	XP_005257623.1:p.Gly1046Trp