Canonical Allele Identifier: CA1628833264

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479707T= , CM000668.2:g.52479707T=	GRCh38
NC_000006.11:g.52344505T= , CM000668.1:g.52344505T=	GRCh37
NC_000006.10:g.52452464T=	NCBI36
NG_016760.1:g.64512T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1560T= MANE Select	ENSP00000360107.4:p.Ala520=
ENST00000480623.6:c.1560T=	ENSP00000434498.2:p.Ala520=
ENST00000635760.1:c.1236T=	ENSP00000489765.1:p.Ala412=
ENST00000635812.1:c.*861T=	ENSP00000490859.1:n.*861T=
ENST00000635866.1:c.*1429T=	ENSP00000489866.1:n.*1429T=
ENST00000635911.1:n.3078T=
ENST00000635984.1:c.1236T=	ENSP00000489921.1:p.Ala412=
ENST00000635996.1:c.1560T=	ENSP00000490256.1:p.Ala520=
ENST00000636107.1:c.1560T=	ENSP00000489680.1:p.Ala520=
ENST00000636311.1:n.1454T=
ENST00000636343.1:c.1226T=
ENST00000636379.1:c.1272T=	ENSP00000490622.1:p.Ala424=
ENST00000636398.1:c.1260T=	ENSP00000489654.1:n.1260T=
ENST00000636489.1:c.1503T=	ENSP00000489998.1:p.Ala501=
ENST00000636616.1:n.1121T=
ENST00000636702.1:c.1530T=	ENSP00000489623.1:p.Ala510=
ENST00000636954.1:c.1503T=	ENSP00000489966.1:p.Ala501=
ENST00000637089.1:c.1560T=	ENSP00000489854.1:p.Ala520=
ENST00000637121.1:n.1362T=
ENST00000637263.1:c.1560T=	ENSP00000489700.1:p.Ala520=
ENST00000637340.1:n.3485T=
ENST00000637353.1:c.1560T=	ENSP00000490441.1:p.Ala520=
ENST00000637602.1:c.*1261T=	ENSP00000490074.1:n.*1261T=
ENST00000637849.1:n.1624T=
ENST00000637892.1:n.1764T=
ENST00000371068.9:c.1560T=	ENSP00000360107.4:p.Ala520=
ENST00000480623.5:c.*1980T=	ENSP00000434498.1:n.*1980T=
ENST00000538167.2:c.1503T=	ENSP00000444521.1:p.Ala501=
NM_001172420.1:c.1503T=	NP_001165891.1:p.Ala501=
NM_018100.3:c.1560T=	NP_060570.2:p.Ala520=
NR_033327.1:n.3032T=
NM_018100.4:c.1560T= MANE Select	NP_060570.2:p.Ala520=
NM_001172420.2:c.1503T=	NP_001165891.1:p.Ala501=
NR_033327.2:n.2886T=