Canonical Allele Identifier: CA1628833291

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479724A= , CM000668.2:g.52479724A=	GRCh38
NC_000006.11:g.52344522A= , CM000668.1:g.52344522A=	GRCh37
NC_000006.10:g.52452481A=	NCBI36
NG_016760.1:g.64529A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1577A= MANE Select	ENSP00000360107.4:p.Glu526=
ENST00000480623.6:c.1577A=	ENSP00000434498.2:p.Glu526=
ENST00000635760.1:c.1253A=	ENSP00000489765.1:p.Glu418=
ENST00000635812.1:c.*878A=	ENSP00000490859.1:n.*878A=
ENST00000635866.1:c.*1446A=	ENSP00000489866.1:n.*1446A=
ENST00000635911.1:n.3095A=
ENST00000635984.1:c.1253A=	ENSP00000489921.1:p.Glu418=
ENST00000635996.1:c.1577A=	ENSP00000490256.1:p.Glu526=
ENST00000636107.1:c.1577A=	ENSP00000489680.1:p.Glu526=
ENST00000636311.1:n.1471A=
ENST00000636343.1:c.1243A=
ENST00000636379.1:c.1289A=	ENSP00000490622.1:p.Glu430=
ENST00000636398.1:c.1277A=	ENSP00000489654.1:n.1277A=
ENST00000636489.1:c.1520A=	ENSP00000489998.1:p.Glu507=
ENST00000636616.1:n.1138A=
ENST00000636702.1:c.1547A=	ENSP00000489623.1:p.Glu516=
ENST00000636954.1:c.1520A=	ENSP00000489966.1:p.Glu507=
ENST00000637089.1:c.1577A=	ENSP00000489854.1:p.Glu526=
ENST00000637121.1:n.1379A=
ENST00000637263.1:c.1577A=	ENSP00000489700.1:p.Glu526=
ENST00000637340.1:n.3502A=
ENST00000637353.1:c.1577A=	ENSP00000490441.1:p.Glu526=
ENST00000637602.1:c.*1278A=	ENSP00000490074.1:n.*1278A=
ENST00000637849.1:n.1641A=
ENST00000637892.1:n.1781A=
ENST00000371068.9:c.1577A=	ENSP00000360107.4:p.Glu526=
ENST00000480623.5:c.*1997A=	ENSP00000434498.1:n.*1997A=
ENST00000538167.2:c.1520A=	ENSP00000444521.1:p.Glu507=
NM_001172420.1:c.1520A=	NP_001165891.1:p.Glu507=
NM_018100.3:c.1577A=	NP_060570.2:p.Glu526=
NR_033327.1:n.3049A=
NM_018100.4:c.1577A= MANE Select	NP_060570.2:p.Glu526=
NM_001172420.2:c.1520A=	NP_001165891.1:p.Glu507=
NR_033327.2:n.2903A=