Canonical Allele Identifier: CA1628832567

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479145G= , CM000668.2:g.52479145G=	GRCh38
NC_000006.11:g.52343943G= , CM000668.1:g.52343943G=	GRCh37
NC_000006.10:g.52451902G=	NCBI36
NG_016760.1:g.63950G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1387G= MANE Select	ENSP00000360107.4:p.Gly463=
ENST00000480623.6:c.1387G=	ENSP00000434498.2:p.Gly463=
ENST00000635760.1:c.1063G=	ENSP00000489765.1:p.Gly355=
ENST00000635812.1:c.*688G=	ENSP00000490859.1:n.*688G=
ENST00000635866.1:c.*1256G=	ENSP00000489866.1:n.*1256G=
ENST00000635911.1:n.2905G=
ENST00000635984.1:c.1063G=	ENSP00000489921.1:p.Gly355=
ENST00000635996.1:c.1387G=	ENSP00000490256.1:p.Gly463=
ENST00000636107.1:c.1387G=	ENSP00000489680.1:p.Gly463=
ENST00000636311.1:n.1281G=
ENST00000636343.1:c.1053G=
ENST00000636379.1:c.1099G=	ENSP00000490622.1:p.Gly367=
ENST00000636398.1:c.1087G=	ENSP00000489654.1:n.1087G=
ENST00000636489.1:c.1330G=	ENSP00000489998.1:p.Gly444=
ENST00000636616.1:n.948G=
ENST00000636702.1:c.1357G=	ENSP00000489623.1:p.Gly453=
ENST00000636954.1:c.1330G=	ENSP00000489966.1:p.Gly444=
ENST00000637089.1:c.1387G=	ENSP00000489854.1:p.Gly463=
ENST00000637121.1:n.1189G=
ENST00000637263.1:c.1387G=	ENSP00000489700.1:p.Gly463=
ENST00000637340.1:n.3312G=
ENST00000637353.1:c.1387G=	ENSP00000490441.1:p.Gly463=
ENST00000637602.1:c.*1088G=	ENSP00000490074.1:n.*1088G=
ENST00000637849.1:n.1451G=
ENST00000637874.1:c.332G=	ENSP00000490348.1:n.332G=
ENST00000637892.1:n.1591G=
ENST00000371068.9:c.1387G=	ENSP00000360107.4:p.Gly463=
ENST00000480623.5:c.*1807G=	ENSP00000434498.1:n.*1807G=
ENST00000538167.2:c.1330G=	ENSP00000444521.1:p.Gly444=
NM_001172420.1:c.1330G=	NP_001165891.1:p.Gly444=
NM_018100.3:c.1387G=	NP_060570.2:p.Gly463=
NR_033327.1:n.2859G=
NM_018100.4:c.1387G= MANE Select	NP_060570.2:p.Gly463=
NM_001172420.2:c.1330G=	NP_001165891.1:p.Gly444=
NR_033327.2:n.2713G=