Canonical Allele Identifier: CA1628820774

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452776G= , CM000668.2:g.52452776G=	GRCh38
NC_000006.11:g.52317574G= , CM000668.1:g.52317574G=	GRCh37
NC_000006.10:g.52425533G=	NCBI36
NG_016760.1:g.37581G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.662G= MANE Select	ENSP00000360107.4:p.Arg221=
ENST00000480623.6:c.662G=	ENSP00000434498.2:p.Arg221=
ENST00000635760.1:c.338G=	ENSP00000489765.1:p.Arg113=
ENST00000635812.1:c.662G=	ENSP00000490859.1:p.Arg221=
ENST00000635866.1:c.*531G=	ENSP00000489866.1:n.*531G=
ENST00000635911.1:n.923G=
ENST00000635984.1:c.338G=	ENSP00000489921.1:p.Arg113=
ENST00000635996.1:c.662G=	ENSP00000490256.1:p.Arg221=
ENST00000636107.1:c.662G=	ENSP00000489680.1:p.Arg221=
ENST00000636253.1:n.316G=
ENST00000636311.1:n.556G=
ENST00000636343.1:c.328G=
ENST00000636379.1:c.374G=	ENSP00000490622.1:p.Arg125=
ENST00000636398.1:c.329G=	ENSP00000489654.1:p.Arg110=
ENST00000636489.1:c.605G=	ENSP00000489998.1:p.Arg202=
ENST00000636702.1:c.632G=	ENSP00000489623.1:p.Arg211=
ENST00000636954.1:c.605G=	ENSP00000489966.1:p.Arg202=
ENST00000637089.1:c.662G=	ENSP00000489854.1:p.Arg221=
ENST00000637200.1:c.*678G=	ENSP00000490567.1:n.*678G=
ENST00000637263.1:c.662G=	ENSP00000489700.1:p.Arg221=
ENST00000637340.1:n.1330G=
ENST00000637353.1:c.662G=	ENSP00000490441.1:p.Arg221=
ENST00000637602.1:c.*363G=	ENSP00000490074.1:n.*363G=
ENST00000637849.1:n.726G=
ENST00000637892.1:n.866G=
ENST00000371068.9:c.662G=	ENSP00000360107.4:p.Arg221=
ENST00000480623.5:c.662G=	ENSP00000434498.1:p.Arg221=
ENST00000538167.2:c.605G=	ENSP00000444521.1:p.Arg202=
NM_001172420.1:c.605G=	NP_001165891.1:p.Arg202=
NM_018100.3:c.662G=	NP_060570.2:p.Arg221=
NR_033327.1:n.877G=
NM_018100.4:c.662G= MANE Select	NP_060570.2:p.Arg221=
NM_001172420.2:c.605G=	NP_001165891.1:p.Arg202=
NR_033327.2:n.731G=