Canonical Allele Identifier: CA1628826024

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52465022T= , CM000668.2:g.52465022T=	GRCh38
NC_000006.11:g.52329820T= , CM000668.1:g.52329820T=	GRCh37
NC_000006.10:g.52437779T=	NCBI36
NG_016760.1:g.49827T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1044T= MANE Select	ENSP00000360107.4:p.Asp348=
ENST00000480623.6:c.1044T=	ENSP00000434498.2:p.Asp348=
ENST00000635760.1:c.720T=	ENSP00000489765.1:p.Asp240=
ENST00000635812.1:c.*345T=	ENSP00000490859.1:n.*345T=
ENST00000635866.1:c.*913T=	ENSP00000489866.1:n.*913T=
ENST00000635911.1:n.2562T=
ENST00000635984.1:c.720T=	ENSP00000489921.1:p.Asp240=
ENST00000635996.1:c.1044T=	ENSP00000490256.1:p.Asp348=
ENST00000636107.1:c.1044T=	ENSP00000489680.1:p.Asp348=
ENST00000636311.1:n.938T=
ENST00000636343.1:c.710T=
ENST00000636379.1:c.756T=	ENSP00000490622.1:p.Asp252=
ENST00000636398.1:c.744T=	ENSP00000489654.1:n.744T=
ENST00000636489.1:c.987T=	ENSP00000489998.1:p.Asp329=
ENST00000636616.1:n.660T=
ENST00000636702.1:c.1014T=	ENSP00000489623.1:p.Asp338=
ENST00000636954.1:c.987T=	ENSP00000489966.1:p.Asp329=
ENST00000637089.1:c.1044T=	ENSP00000489854.1:p.Asp348=
ENST00000637263.1:c.1044T=	ENSP00000489700.1:p.Asp348=
ENST00000637340.1:n.2969T=
ENST00000637353.1:c.1044T=	ENSP00000490441.1:p.Asp348=
ENST00000637602.1:c.*745T=	ENSP00000490074.1:n.*745T=
ENST00000637849.1:n.1108T=
ENST00000637874.1:c.83-4311T=	ENSP00000490348.1:n.83-4311T=
ENST00000637892.1:n.1248T=
ENST00000371068.9:c.1044T=	ENSP00000360107.4:p.Asp348=
ENST00000480623.5:c.*1464T=	ENSP00000434498.1:n.*1464T=
ENST00000538167.2:c.987T=	ENSP00000444521.1:p.Asp329=
NM_001172420.1:c.987T=	NP_001165891.1:p.Asp329=
NM_018100.3:c.1044T=	NP_060570.2:p.Asp348=
NR_033327.1:n.2516T=
NM_018100.4:c.1044T= MANE Select	NP_060570.2:p.Asp348=
NM_001172420.2:c.987T=	NP_001165891.1:p.Asp329=
NR_033327.2:n.2370T=