Canonical Allele Identifier: CA117840

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5903
• ClinVar RCV Id: RCV000006264 ; RCV000006265 ; RCV000479620 ; RCV000690377 ; RCV002267601
• dbSNP Id: rs80338792
• gnomAD v2: 17-62021206-C-A
• gnomAD v4: 17-63943846-C-A
• MyVariant Identifiers: chr17:g.62021206C>A (hg19) ; chr17:g.63943846C>A (hg38)
• PubMed: PMID:1310898 ; PMID:7473241 ; PMID:8044656 ; PMID:8308722 ; PMID:18337100 ; PMID:27415035 ; PMID:28150151

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63943846C>A , CM000679.2:g.63943846C>A	GRCh38
NC_000017.10:g.62021206C>A , CM000679.1:g.62021206C>A	GRCh37
NC_000017.9:g.59374938C>A	NCBI36
NG_011699.1:g.34073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3917G>T MANE Select	ENSP00000396320.1:p.Gly1306Val
ENST00000578147.5:c.3917G>T	ENSP00000463963.1:p.Arg1306Met
NM_000334.4:c.3917G>T MANE Select	NP_000325.4:p.Gly1306Val
XM_005257566.3:c.3917G>T	XP_005257623.1:p.Gly1306Val