Canonical Allele Identifier: CA1628821392

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454147G= , CM000668.2:g.52454147G=	GRCh38
NC_000006.11:g.52318945G= , CM000668.1:g.52318945G=	GRCh37
NC_000006.10:g.52426904G=	NCBI36
NG_016760.1:g.38952G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.776G= MANE Select	ENSP00000360107.4:p.Cys259=
ENST00000480623.6:c.776G=	ENSP00000434498.2:p.Cys259=
ENST00000635760.1:c.452G=	ENSP00000489765.1:p.Cys151=
ENST00000635812.1:c.*77G=	ENSP00000490859.1:n.*77G=
ENST00000635866.1:c.*645G=	ENSP00000489866.1:n.*645G=
ENST00000635911.1:n.2294G=
ENST00000635984.1:c.452G=	ENSP00000489921.1:p.Cys151=
ENST00000635996.1:c.776G=	ENSP00000490256.1:p.Cys259=
ENST00000636107.1:c.776G=	ENSP00000489680.1:p.Cys259=
ENST00000636311.1:n.670G=
ENST00000636343.1:c.442G=
ENST00000636379.1:c.488G=	ENSP00000490622.1:p.Cys163=
ENST00000636398.1:c.476G=	ENSP00000489654.1:n.476G=
ENST00000636489.1:c.719G=	ENSP00000489998.1:p.Cys240=
ENST00000636616.1:n.392G=
ENST00000636702.1:c.746G=	ENSP00000489623.1:p.Cys249=
ENST00000636954.1:c.719G=	ENSP00000489966.1:p.Cys240=
ENST00000637089.1:c.776G=	ENSP00000489854.1:p.Cys259=
ENST00000637263.1:c.776G=	ENSP00000489700.1:p.Cys259=
ENST00000637340.1:n.2701G=
ENST00000637353.1:c.776G=	ENSP00000490441.1:p.Cys259=
ENST00000637602.1:c.*477G=	ENSP00000490074.1:n.*477G=
ENST00000637849.1:n.840G=
ENST00000637892.1:n.980G=
ENST00000371068.9:c.776G=	ENSP00000360107.4:p.Cys259=
ENST00000480623.5:c.*1196G=	ENSP00000434498.1:n.*1196G=
ENST00000538167.2:c.719G=	ENSP00000444521.1:p.Cys240=
NM_001172420.1:c.719G=	NP_001165891.1:p.Cys240=
NM_018100.3:c.776G=	NP_060570.2:p.Cys259=
NR_033327.1:n.2248G=
NM_018100.4:c.776G= MANE Select	NP_060570.2:p.Cys259=
NM_001172420.2:c.719G=	NP_001165891.1:p.Cys240=
NR_033327.2:n.2102G=