Canonical Allele Identifier: CA1628833179

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479689A= , CM000668.2:g.52479689A=	GRCh38
NC_000006.11:g.52344487A= , CM000668.1:g.52344487A=	GRCh37
NC_000006.10:g.52452446A=	NCBI36
NG_016760.1:g.64494A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1542A= MANE Select	ENSP00000360107.4:p.Lys514=
ENST00000480623.6:c.1542A=	ENSP00000434498.2:p.Lys514=
ENST00000635760.1:c.1218A=	ENSP00000489765.1:p.Lys406=
ENST00000635812.1:c.*843A=	ENSP00000490859.1:n.*843A=
ENST00000635866.1:c.*1411A=	ENSP00000489866.1:n.*1411A=
ENST00000635911.1:n.3060A=
ENST00000635984.1:c.1218A=	ENSP00000489921.1:p.Lys406=
ENST00000635996.1:c.1542A=	ENSP00000490256.1:p.Lys514=
ENST00000636107.1:c.1542A=	ENSP00000489680.1:p.Lys514=
ENST00000636311.1:n.1436A=
ENST00000636343.1:c.1208A=
ENST00000636379.1:c.1254A=	ENSP00000490622.1:p.Lys418=
ENST00000636398.1:c.1242A=	ENSP00000489654.1:n.1242A=
ENST00000636489.1:c.1485A=	ENSP00000489998.1:p.Lys495=
ENST00000636616.1:n.1103A=
ENST00000636702.1:c.1512A=	ENSP00000489623.1:p.Lys504=
ENST00000636954.1:c.1485A=	ENSP00000489966.1:p.Lys495=
ENST00000637089.1:c.1542A=	ENSP00000489854.1:p.Lys514=
ENST00000637121.1:n.1344A=
ENST00000637263.1:c.1542A=	ENSP00000489700.1:p.Lys514=
ENST00000637340.1:n.3467A=
ENST00000637353.1:c.1542A=	ENSP00000490441.1:p.Lys514=
ENST00000637602.1:c.*1243A=	ENSP00000490074.1:n.*1243A=
ENST00000637849.1:n.1606A=
ENST00000637874.1:c.487A=	ENSP00000490348.1:n.487A=
ENST00000637892.1:n.1746A=
ENST00000371068.9:c.1542A=	ENSP00000360107.4:p.Lys514=
ENST00000480623.5:c.*1962A=	ENSP00000434498.1:n.*1962A=
ENST00000538167.2:c.1485A=	ENSP00000444521.1:p.Lys495=
NM_001172420.1:c.1485A=	NP_001165891.1:p.Lys495=
NM_018100.3:c.1542A=	NP_060570.2:p.Lys514=
NR_033327.1:n.3014A=
NM_018100.4:c.1542A= MANE Select	NP_060570.2:p.Lys514=
NM_001172420.2:c.1485A=	NP_001165891.1:p.Lys495=
NR_033327.2:n.2868A=