Canonical Allele Identifier: CA117845

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5908
• ClinVar RCV Id: RCV000153907 ; RCV000525753
• dbSNP Id: rs80338792
• ExAC: 17:62021206 C / G
• gnomAD v2: 17-62021206-C-G
• gnomAD v3: 17-63943846-C-G
• gnomAD v4: 17-63943846-C-G
• MyVariant Identifiers: chr17:g.62021206C>G (hg19) ; chr17:g.63943846C>G (hg38)
• PubMed: PMID:7980103 ; PMID:8308722

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.3917G>C MANE Select	ENSP00000396320.1:p.Gly1306Ala
ENST00000578147.5:c.3917G>C	ENSP00000463963.1:p.Arg1306Thr
NM_000334.4:c.3917G>C MANE Select	NP_000325.4:p.Gly1306Ala
XM_005257566.3:c.3917G>C	XP_005257623.1:p.Gly1306Ala