Canonical Allele Identifier: CA1628833290

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479721C= , CM000668.2:g.52479721C=	GRCh38
NC_000006.11:g.52344519C= , CM000668.1:g.52344519C=	GRCh37
NC_000006.10:g.52452478C=	NCBI36
NG_016760.1:g.64526C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1574C= MANE Select	ENSP00000360107.4:p.Pro525=
ENST00000480623.6:c.1574C=	ENSP00000434498.2:p.Pro525=
ENST00000635760.1:c.1250C=	ENSP00000489765.1:p.Pro417=
ENST00000635812.1:c.*875C=	ENSP00000490859.1:n.*875C=
ENST00000635866.1:c.*1443C=	ENSP00000489866.1:n.*1443C=
ENST00000635911.1:n.3092C=
ENST00000635984.1:c.1250C=	ENSP00000489921.1:p.Pro417=
ENST00000635996.1:c.1574C=	ENSP00000490256.1:p.Pro525=
ENST00000636107.1:c.1574C=	ENSP00000489680.1:p.Pro525=
ENST00000636311.1:n.1468C=
ENST00000636343.1:c.1240C=
ENST00000636379.1:c.1286C=	ENSP00000490622.1:p.Pro429=
ENST00000636398.1:c.1274C=	ENSP00000489654.1:n.1274C=
ENST00000636489.1:c.1517C=	ENSP00000489998.1:p.Pro506=
ENST00000636616.1:n.1135C=
ENST00000636702.1:c.1544C=	ENSP00000489623.1:p.Pro515=
ENST00000636954.1:c.1517C=	ENSP00000489966.1:p.Pro506=
ENST00000637089.1:c.1574C=	ENSP00000489854.1:p.Pro525=
ENST00000637121.1:n.1376C=
ENST00000637263.1:c.1574C=	ENSP00000489700.1:p.Pro525=
ENST00000637340.1:n.3499C=
ENST00000637353.1:c.1574C=	ENSP00000490441.1:p.Pro525=
ENST00000637602.1:c.*1275C=	ENSP00000490074.1:n.*1275C=
ENST00000637849.1:n.1638C=
ENST00000637892.1:n.1778C=
ENST00000371068.9:c.1574C=	ENSP00000360107.4:p.Pro525=
ENST00000480623.5:c.*1994C=	ENSP00000434498.1:n.*1994C=
ENST00000538167.2:c.1517C=	ENSP00000444521.1:p.Pro506=
NM_001172420.1:c.1517C=	NP_001165891.1:p.Pro506=
NM_018100.3:c.1574C=	NP_060570.2:p.Pro525=
NR_033327.1:n.3046C=
NM_018100.4:c.1574C= MANE Select	NP_060570.2:p.Pro525=
NM_001172420.2:c.1517C=	NP_001165891.1:p.Pro506=
NR_033327.2:n.2900C=