Canonical Allele Identifier: CA400633506

Gene: SCN4A

Linked Data

• MyVariant Identifiers: chr17:g.62038693T>G (hg19) ; chr17:g.63961333T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961333T>G , CM000679.2:g.63961333T>G	GRCh38
NC_000017.10:g.62038693T>G , CM000679.1:g.62038693T>G	GRCh37
NC_000017.9:g.59392425T>G	NCBI36
NG_011699.1:g.16586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1705A>C MANE Select	ENSP00000396320.1:p.Asn569His
ENST00000578147.5:c.1705A>C	ENSP00000463963.1:p.Asn569His
ENST00000581514.1:n.361A>C
NM_000334.4:c.1705A>C MANE Select	NP_000325.4:p.Asn569His
XM_005257566.3:c.1705A>C	XP_005257623.1:p.Asn569His
XR_934910.1:n.124+611T>G
XR_001752969.1:n.1276+611T>G
XR_934910.2:n.1276+611T>G