Canonical Allele Identifier: CA1628825988

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464921A= , CM000668.2:g.52464921A=	GRCh38
NC_000006.11:g.52329719A= , CM000668.1:g.52329719A=	GRCh37
NC_000006.10:g.52437678A=	NCBI36
NG_016760.1:g.49726A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.943A= MANE Select	ENSP00000360107.4:p.Ile315=
ENST00000480623.6:c.943A=	ENSP00000434498.2:p.Ile315=
ENST00000635760.1:c.619A=	ENSP00000489765.1:p.Ile207=
ENST00000635812.1:c.*244A=	ENSP00000490859.1:n.*244A=
ENST00000635866.1:c.*812A=	ENSP00000489866.1:n.*812A=
ENST00000635911.1:n.2461A=
ENST00000635984.1:c.619A=	ENSP00000489921.1:p.Ile207=
ENST00000635996.1:c.943A=	ENSP00000490256.1:p.Ile315=
ENST00000636107.1:c.943A=	ENSP00000489680.1:p.Ile315=
ENST00000636311.1:n.837A=
ENST00000636343.1:c.609A=
ENST00000636379.1:c.655A=	ENSP00000490622.1:p.Ile219=
ENST00000636398.1:c.643A=	ENSP00000489654.1:n.643A=
ENST00000636489.1:c.886A=	ENSP00000489998.1:p.Ile296=
ENST00000636616.1:n.559A=
ENST00000636702.1:c.913A=	ENSP00000489623.1:p.Ile305=
ENST00000636954.1:c.886A=	ENSP00000489966.1:p.Ile296=
ENST00000637089.1:c.943A=	ENSP00000489854.1:p.Ile315=
ENST00000637263.1:c.943A=	ENSP00000489700.1:p.Ile315=
ENST00000637340.1:n.2868A=
ENST00000637353.1:c.943A=	ENSP00000490441.1:p.Ile315=
ENST00000637602.1:c.*644A=	ENSP00000490074.1:n.*644A=
ENST00000637849.1:n.1007A=
ENST00000637874.1:c.83-4412A=	ENSP00000490348.1:n.83-4412A=
ENST00000637892.1:n.1147A=
ENST00000371068.9:c.943A=	ENSP00000360107.4:p.Ile315=
ENST00000480623.5:c.*1363A=	ENSP00000434498.1:n.*1363A=
ENST00000538167.2:c.886A=	ENSP00000444521.1:p.Ile296=
NM_001172420.1:c.886A=	NP_001165891.1:p.Ile296=
NM_018100.3:c.943A=	NP_060570.2:p.Ile315=
NR_033327.1:n.2415A=
NM_018100.4:c.943A= MANE Select	NP_060570.2:p.Ile315=
NM_001172420.2:c.886A=	NP_001165891.1:p.Ile296=
NR_033327.2:n.2269A=