Canonical Allele Identifier: CA3856020

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52469420G>A , CM000668.2:g.52469420G>A	GRCh38
NC_000006.11:g.52334218G>A , CM000668.1:g.52334218G>A	GRCh37
NC_000006.10:g.52442177G>A	NCBI36
NG_016760.1:g.54225G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.1225G>A MANE Select	NP_060570.2:p.Val409Ile
ENST00000371068.11:c.1225G>A MANE Select	ENSP00000360107.4:p.Val409Ile
NM_001172420.1:c.1168G>A	NP_001165891.1:p.Val390Ile
NM_001172420.2:c.1168G>A	NP_001165891.1:p.Val390Ile
NM_018100.3:c.1225G>A	NP_060570.2:p.Val409Ile
NR_033327.1:n.2697G>A
NR_033327.2:n.2551G>A
ENST00000371068.9:c.1225G>A	ENSP00000360107.4:p.Val409Ile
ENST00000480623.5:c.*1645G>A	ENSP00000434498.1:n.*1645G>A
ENST00000480623.6:c.1225G>A	ENSP00000434498.2:p.Val409Ile
ENST00000538167.2:c.1168G>A	ENSP00000444521.1:p.Val390Ile
ENST00000635760.1:c.901G>A	ENSP00000489765.1:p.Val301Ile
ENST00000635812.1:c.*526G>A	ENSP00000490859.1:n.*526G>A
ENST00000635866.1:c.*1094G>A	ENSP00000489866.1:n.*1094G>A
ENST00000635911.1:n.2743G>A
ENST00000635984.1:c.901G>A	ENSP00000489921.1:p.Val301Ile
ENST00000635996.1:c.1225G>A	ENSP00000490256.1:p.Val409Ile
ENST00000636107.1:c.1225G>A	ENSP00000489680.1:p.Val409Ile
ENST00000636311.1:n.1119G>A
ENST00000636343.1:c.891G>A
ENST00000636379.1:c.937G>A	ENSP00000490622.1:p.Val313Ile
ENST00000636398.1:c.925G>A	ENSP00000489654.1:n.925G>A
ENST00000636489.1:c.1168G>A	ENSP00000489998.1:p.Val390Ile
ENST00000636616.1:n.841G>A
ENST00000636702.1:c.1195G>A	ENSP00000489623.1:p.Val399Ile
ENST00000636954.1:c.1168G>A	ENSP00000489966.1:p.Val390Ile
ENST00000637089.1:c.1225G>A	ENSP00000489854.1:p.Val409Ile
ENST00000637121.1:n.1027G>A
ENST00000637263.1:c.1225G>A	ENSP00000489700.1:p.Val409Ile
ENST00000637340.1:n.3150G>A
ENST00000637353.1:c.1225G>A	ENSP00000490441.1:p.Val409Ile
ENST00000637602.1:c.*926G>A	ENSP00000490074.1:n.*926G>A
ENST00000637849.1:n.1289G>A
ENST00000637874.1:c.170G>A	ENSP00000490348.1:n.170G>A
ENST00000637892.1:n.1429G>A