Canonical Allele Identifier: CA8709466

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324527
• ClinVar RCV Id: RCV000275763 ; RCV000311093 ; RCV000316895 ; RCV000370375 ; RCV000438809 ; RCV000526523 ; RCV001092726
• dbSNP Id: rs374039266
• ExAC: 17:62026893 G / A
• gnomAD v2: 17-62026893-G-A
• gnomAD v3: 17-63949533-G-A
• gnomAD v4: 17-63949533-G-A
• MyVariant Identifiers: chr17:g.62026893G>A (hg19) ; chr17:g.63949533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63949533G>A , CM000679.2:g.63949533G>A	GRCh38
NC_000017.10:g.62026893G>A , CM000679.1:g.62026893G>A	GRCh37
NC_000017.9:g.59380625G>A	NCBI36
NG_011699.1:g.28386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2854-5C>T MANE Select	ENSP00000396320.1:n.2854-5C>T
ENST00000578147.5:c.2854-5C>T	ENSP00000463963.1:n.2854-5C>T
ENST00000584310.1:n.172C>T
NM_000334.4:c.2854-5C>T MANE Select	NP_000325.4:n.2854-5C>T
XM_005257566.3:c.2854-5C>T	XP_005257623.1:n.2854-5C>T