Canonical Allele Identifier: CA400617300

Gene: SCN4A

Linked Data

• MyVariant Identifiers: chr17:g.62022074T>A (hg19) ; chr17:g.63944714T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944714T>A , CM000679.2:g.63944714T>A	GRCh38
NC_000017.10:g.62022074T>A , CM000679.1:g.62022074T>A	GRCh37
NC_000017.9:g.59375806T>A	NCBI36
NG_011699.1:g.33205A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3871A>T MANE Select	ENSP00000396320.1:p.Ile1291Phe
ENST00000578147.5:c.3871A>T	ENSP00000463963.1:p.Ile1291Phe
NM_000334.4:c.3871A>T MANE Select	NP_000325.4:p.Ile1291Phe
XM_005257566.3:c.3871A>T	XP_005257623.1:p.Ile1291Phe