Canonical Allele Identifier: CA1628833272

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479709C= , CM000668.2:g.52479709C=	GRCh38
NC_000006.11:g.52344507C= , CM000668.1:g.52344507C=	GRCh37
NC_000006.10:g.52452466C=	NCBI36
NG_016760.1:g.64514C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1562C= MANE Select	ENSP00000360107.4:p.Ala521=
ENST00000480623.6:c.1562C=	ENSP00000434498.2:p.Ala521=
ENST00000635760.1:c.1238C=	ENSP00000489765.1:p.Ala413=
ENST00000635812.1:c.*863C=	ENSP00000490859.1:n.*863C=
ENST00000635866.1:c.*1431C=	ENSP00000489866.1:n.*1431C=
ENST00000635911.1:n.3080C=
ENST00000635984.1:c.1238C=	ENSP00000489921.1:p.Ala413=
ENST00000635996.1:c.1562C=	ENSP00000490256.1:p.Ala521=
ENST00000636107.1:c.1562C=	ENSP00000489680.1:p.Ala521=
ENST00000636311.1:n.1456C=
ENST00000636343.1:c.1228C=
ENST00000636379.1:c.1274C=	ENSP00000490622.1:p.Ala425=
ENST00000636398.1:c.1262C=	ENSP00000489654.1:n.1262C=
ENST00000636489.1:c.1505C=	ENSP00000489998.1:p.Ala502=
ENST00000636616.1:n.1123C=
ENST00000636702.1:c.1532C=	ENSP00000489623.1:p.Ala511=
ENST00000636954.1:c.1505C=	ENSP00000489966.1:p.Ala502=
ENST00000637089.1:c.1562C=	ENSP00000489854.1:p.Ala521=
ENST00000637121.1:n.1364C=
ENST00000637263.1:c.1562C=	ENSP00000489700.1:p.Ala521=
ENST00000637340.1:n.3487C=
ENST00000637353.1:c.1562C=	ENSP00000490441.1:p.Ala521=
ENST00000637602.1:c.*1263C=	ENSP00000490074.1:n.*1263C=
ENST00000637849.1:n.1626C=
ENST00000637892.1:n.1766C=
ENST00000371068.9:c.1562C=	ENSP00000360107.4:p.Ala521=
ENST00000480623.5:c.*1982C=	ENSP00000434498.1:n.*1982C=
ENST00000538167.2:c.1505C=	ENSP00000444521.1:p.Ala502=
NM_001172420.1:c.1505C=	NP_001165891.1:p.Ala502=
NM_018100.3:c.1562C=	NP_060570.2:p.Ala521=
NR_033327.1:n.3034C=
NM_018100.4:c.1562C= MANE Select	NP_060570.2:p.Ala521=
NM_001172420.2:c.1505C=	NP_001165891.1:p.Ala502=
NR_033327.2:n.2888C=