Canonical Allele Identifier: CA2270162409

Gene: SCN4A

Linked Data

• dbSNP Id: rs1908644278

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944360T>C , CM000679.2:g.63944360T>C	GRCh38
NC_000017.10:g.62021720T>C , CM000679.1:g.62021720T>C	GRCh37
NC_000017.9:g.59375452T>C	NCBI36
NG_011699.1:g.33559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+313A>G MANE Select	ENSP00000396320.1:n.3912+313A>G
ENST00000578147.5:c.3916+309A>G	ENSP00000463963.1:n.3916+309A>G
NM_000334.4:c.3912+313A>G MANE Select	NP_000325.4:n.3912+313A>G
XM_005257566.3:c.3912+313A>G	XP_005257623.1:n.3912+313A>G