Canonical Allele Identifier: CA1628821416

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454197C= , CM000668.2:g.52454197C=	GRCh38
NC_000006.11:g.52318995C= , CM000668.1:g.52318995C=	GRCh37
NC_000006.10:g.52426954C=	NCBI36
NG_016760.1:g.39002C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.826C= MANE Select	ENSP00000360107.4:p.Arg276=
ENST00000480623.6:c.826C=	ENSP00000434498.2:p.Arg276=
ENST00000635760.1:c.502C=	ENSP00000489765.1:p.Arg168=
ENST00000635812.1:c.*127C=	ENSP00000490859.1:n.*127C=
ENST00000635866.1:c.*695C=	ENSP00000489866.1:n.*695C=
ENST00000635911.1:n.2344C=
ENST00000635984.1:c.502C=	ENSP00000489921.1:p.Arg168=
ENST00000635996.1:c.826C=	ENSP00000490256.1:p.Arg276=
ENST00000636107.1:c.826C=	ENSP00000489680.1:p.Arg276=
ENST00000636311.1:n.720C=
ENST00000636343.1:c.492C=
ENST00000636379.1:c.538C=	ENSP00000490622.1:p.Arg180=
ENST00000636398.1:c.526C=	ENSP00000489654.1:n.526C=
ENST00000636489.1:c.769C=	ENSP00000489998.1:p.Arg257=
ENST00000636616.1:n.442C=
ENST00000636702.1:c.796C=	ENSP00000489623.1:p.Arg266=
ENST00000636954.1:c.769C=	ENSP00000489966.1:p.Arg257=
ENST00000637089.1:c.826C=	ENSP00000489854.1:p.Arg276=
ENST00000637263.1:c.826C=	ENSP00000489700.1:p.Arg276=
ENST00000637340.1:n.2751C=
ENST00000637353.1:c.826C=	ENSP00000490441.1:p.Arg276=
ENST00000637602.1:c.*527C=	ENSP00000490074.1:n.*527C=
ENST00000637849.1:n.890C=
ENST00000637892.1:n.1030C=
ENST00000371068.9:c.826C=	ENSP00000360107.4:p.Arg276=
ENST00000480623.5:c.*1246C=	ENSP00000434498.1:n.*1246C=
ENST00000538167.2:c.769C=	ENSP00000444521.1:p.Arg257=
NM_001172420.1:c.769C=	NP_001165891.1:p.Arg257=
NM_018100.3:c.826C=	NP_060570.2:p.Arg276=
NR_033327.1:n.2298C=
NM_018100.4:c.826C= MANE Select	NP_060570.2:p.Arg276=
NM_001172420.2:c.769C=	NP_001165891.1:p.Arg257=
NR_033327.2:n.2152C=