Canonical Allele Identifier: CA1628821449

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454267A= , CM000668.2:g.52454267A=	GRCh38
NC_000006.11:g.52319065A= , CM000668.1:g.52319065A=	GRCh37
NC_000006.10:g.52427024A=	NCBI36
NG_016760.1:g.39072A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.896A= MANE Select	ENSP00000360107.4:p.Lys299=
ENST00000480623.6:c.896A=	ENSP00000434498.2:p.Lys299=
ENST00000635760.1:c.572A=	ENSP00000489765.1:p.Lys191=
ENST00000635812.1:c.*197A=	ENSP00000490859.1:n.*197A=
ENST00000635866.1:c.*765A=	ENSP00000489866.1:n.*765A=
ENST00000635911.1:n.2414A=
ENST00000635984.1:c.572A=	ENSP00000489921.1:p.Lys191=
ENST00000635996.1:c.896A=	ENSP00000490256.1:p.Lys299=
ENST00000636107.1:c.896A=	ENSP00000489680.1:p.Lys299=
ENST00000636311.1:n.790A=
ENST00000636343.1:c.562A=
ENST00000636379.1:c.608A=	ENSP00000490622.1:p.Lys203=
ENST00000636398.1:c.596A=	ENSP00000489654.1:n.596A=
ENST00000636489.1:c.839A=	ENSP00000489998.1:p.Lys280=
ENST00000636616.1:n.512A=
ENST00000636702.1:c.866A=	ENSP00000489623.1:p.Lys289=
ENST00000636954.1:c.839A=	ENSP00000489966.1:p.Lys280=
ENST00000637089.1:c.896A=	ENSP00000489854.1:p.Lys299=
ENST00000637263.1:c.896A=	ENSP00000489700.1:p.Lys299=
ENST00000637340.1:n.2821A=
ENST00000637353.1:c.896A=	ENSP00000490441.1:p.Lys299=
ENST00000637602.1:c.*597A=	ENSP00000490074.1:n.*597A=
ENST00000637849.1:n.960A=
ENST00000637874.1:c.62A=	ENSP00000490348.1:p.Lys21=
ENST00000637892.1:n.1100A=
ENST00000371068.9:c.896A=	ENSP00000360107.4:p.Lys299=
ENST00000480623.5:c.*1316A=	ENSP00000434498.1:n.*1316A=
ENST00000538167.2:c.839A=	ENSP00000444521.1:p.Lys280=
NM_001172420.1:c.839A=	NP_001165891.1:p.Lys280=
NM_018100.3:c.896A=	NP_060570.2:p.Lys299=
NR_033327.1:n.2368A=
NM_018100.4:c.896A= MANE Select	NP_060570.2:p.Lys299=
NM_001172420.2:c.839A=	NP_001165891.1:p.Lys280=
NR_033327.2:n.2222A=