Canonical Allele Identifier: CA1628832465

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479095C= , CM000668.2:g.52479095C=	GRCh38
NC_000006.11:g.52343893C= , CM000668.1:g.52343893C=	GRCh37
NC_000006.10:g.52451852C=	NCBI36
NG_016760.1:g.63900C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1337C= MANE Select	ENSP00000360107.4:p.Thr446=
ENST00000480623.6:c.1337C=	ENSP00000434498.2:p.Thr446=
ENST00000635760.1:c.1013C=	ENSP00000489765.1:p.Thr338=
ENST00000635812.1:c.*638C=	ENSP00000490859.1:n.*638C=
ENST00000635866.1:c.*1206C=	ENSP00000489866.1:n.*1206C=
ENST00000635911.1:n.2855C=
ENST00000635984.1:c.1013C=	ENSP00000489921.1:p.Thr338=
ENST00000635996.1:c.1337C=	ENSP00000490256.1:p.Thr446=
ENST00000636107.1:c.1337C=	ENSP00000489680.1:p.Thr446=
ENST00000636311.1:n.1231C=
ENST00000636343.1:c.1003C=
ENST00000636379.1:c.1049C=	ENSP00000490622.1:p.Thr350=
ENST00000636398.1:c.1037C=	ENSP00000489654.1:n.1037C=
ENST00000636489.1:c.1280C=	ENSP00000489998.1:p.Thr427=
ENST00000636616.1:n.898C=
ENST00000636702.1:c.1307C=	ENSP00000489623.1:p.Thr436=
ENST00000636954.1:c.1280C=	ENSP00000489966.1:p.Thr427=
ENST00000637089.1:c.1337C=	ENSP00000489854.1:p.Thr446=
ENST00000637121.1:n.1139C=
ENST00000637263.1:c.1337C=	ENSP00000489700.1:p.Thr446=
ENST00000637340.1:n.3262C=
ENST00000637353.1:c.1337C=	ENSP00000490441.1:p.Thr446=
ENST00000637602.1:c.*1038C=	ENSP00000490074.1:n.*1038C=
ENST00000637849.1:n.1401C=
ENST00000637874.1:c.282C=	ENSP00000490348.1:n.282C=
ENST00000637892.1:n.1541C=
ENST00000371068.9:c.1337C=	ENSP00000360107.4:p.Thr446=
ENST00000480623.5:c.*1757C=	ENSP00000434498.1:n.*1757C=
ENST00000538167.2:c.1280C=	ENSP00000444521.1:p.Thr427=
NM_001172420.1:c.1280C=	NP_001165891.1:p.Thr427=
NM_018100.3:c.1337C=	NP_060570.2:p.Thr446=
NR_033327.1:n.2809C=
NM_018100.4:c.1337C= MANE Select	NP_060570.2:p.Thr446=
NM_001172420.2:c.1280C=	NP_001165891.1:p.Thr427=
NR_033327.2:n.2663C=