Canonical Allele Identifier: CA253653

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5913
• ClinVar RCV Id: RCV000006276 ; RCV000020262 ; RCV000206901 ; RCV001092728
• dbSNP Id: rs80338785
• MyVariant Identifiers: chr17:g.62036630G>C (hg19) ; chr17:g.63959270G>C (hg38)
• PubMed: PMID:10944223 ; PMID:11912116 ; PMID:20301512 ; PMID:20301669

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63959270G>C , CM000679.2:g.63959270G>C	GRCh38
NC_000017.10:g.62036630G>C , CM000679.1:g.62036630G>C	GRCh37
NC_000017.9:g.59390362G>C	NCBI36
NG_011699.1:g.18649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2014C>G MANE Select	ENSP00000396320.1:p.Arg672Gly
ENST00000578147.5:c.2014C>G	ENSP00000463963.1:p.Arg672Gly
NM_000334.4:c.2014C>G MANE Select	NP_000325.4:p.Arg672Gly
XM_005257566.3:c.2014C>G	XP_005257623.1:p.Arg672Gly