Canonical Allele Identifier: CA1628826022

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52465008A= , CM000668.2:g.52465008A=	GRCh38
NC_000006.11:g.52329806A= , CM000668.1:g.52329806A=	GRCh37
NC_000006.10:g.52437765A=	NCBI36
NG_016760.1:g.49813A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1030A= MANE Select	ENSP00000360107.4:p.Ile344=
ENST00000480623.6:c.1030A=	ENSP00000434498.2:p.Ile344=
ENST00000635760.1:c.706A=	ENSP00000489765.1:p.Ile236=
ENST00000635812.1:c.*331A=	ENSP00000490859.1:n.*331A=
ENST00000635866.1:c.*899A=	ENSP00000489866.1:n.*899A=
ENST00000635911.1:n.2548A=
ENST00000635984.1:c.706A=	ENSP00000489921.1:p.Ile236=
ENST00000635996.1:c.1030A=	ENSP00000490256.1:p.Ile344=
ENST00000636107.1:c.1030A=	ENSP00000489680.1:p.Ile344=
ENST00000636311.1:n.924A=
ENST00000636343.1:c.696A=
ENST00000636379.1:c.742A=	ENSP00000490622.1:p.Ile248=
ENST00000636398.1:c.730A=	ENSP00000489654.1:n.730A=
ENST00000636489.1:c.973A=	ENSP00000489998.1:p.Ile325=
ENST00000636616.1:n.646A=
ENST00000636702.1:c.1000A=	ENSP00000489623.1:p.Ile334=
ENST00000636954.1:c.973A=	ENSP00000489966.1:p.Ile325=
ENST00000637089.1:c.1030A=	ENSP00000489854.1:p.Ile344=
ENST00000637263.1:c.1030A=	ENSP00000489700.1:p.Ile344=
ENST00000637340.1:n.2955A=
ENST00000637353.1:c.1030A=	ENSP00000490441.1:p.Ile344=
ENST00000637602.1:c.*731A=	ENSP00000490074.1:n.*731A=
ENST00000637849.1:n.1094A=
ENST00000637874.1:c.83-4325A=	ENSP00000490348.1:n.83-4325A=
ENST00000637892.1:n.1234A=
ENST00000371068.9:c.1030A=	ENSP00000360107.4:p.Ile344=
ENST00000480623.5:c.*1450A=	ENSP00000434498.1:n.*1450A=
ENST00000538167.2:c.973A=	ENSP00000444521.1:p.Ile325=
NM_001172420.1:c.973A=	NP_001165891.1:p.Ile325=
NM_018100.3:c.1030A=	NP_060570.2:p.Ile344=
NR_033327.1:n.2502A=
NM_018100.4:c.1030A= MANE Select	NP_060570.2:p.Ile344=
NM_001172420.2:c.973A=	NP_001165891.1:p.Ile325=
NR_033327.2:n.2356A=