Canonical Allele Identifier: CA1628826025

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52465025A= , CM000668.2:g.52465025A=	GRCh38
NC_000006.11:g.52329823A= , CM000668.1:g.52329823A=	GRCh37
NC_000006.10:g.52437782A=	NCBI36
NG_016760.1:g.49830A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1047A= MANE Select	ENSP00000360107.4:p.Pro349=
ENST00000480623.6:c.1047A=	ENSP00000434498.2:p.Pro349=
ENST00000635760.1:c.723A=	ENSP00000489765.1:p.Pro241=
ENST00000635812.1:c.*348A=	ENSP00000490859.1:n.*348A=
ENST00000635866.1:c.*916A=	ENSP00000489866.1:n.*916A=
ENST00000635911.1:n.2565A=
ENST00000635984.1:c.723A=	ENSP00000489921.1:p.Pro241=
ENST00000635996.1:c.1047A=	ENSP00000490256.1:p.Pro349=
ENST00000636107.1:c.1047A=	ENSP00000489680.1:p.Pro349=
ENST00000636311.1:n.941A=
ENST00000636343.1:c.713A=
ENST00000636379.1:c.759A=	ENSP00000490622.1:p.Pro253=
ENST00000636398.1:c.747A=	ENSP00000489654.1:n.747A=
ENST00000636489.1:c.990A=	ENSP00000489998.1:p.Pro330=
ENST00000636616.1:n.663A=
ENST00000636702.1:c.1017A=	ENSP00000489623.1:p.Pro339=
ENST00000636954.1:c.990A=	ENSP00000489966.1:p.Pro330=
ENST00000637089.1:c.1047A=	ENSP00000489854.1:p.Pro349=
ENST00000637263.1:c.1047A=	ENSP00000489700.1:p.Pro349=
ENST00000637340.1:n.2972A=
ENST00000637353.1:c.1047A=	ENSP00000490441.1:p.Pro349=
ENST00000637602.1:c.*748A=	ENSP00000490074.1:n.*748A=
ENST00000637849.1:n.1111A=
ENST00000637874.1:c.83-4308A=	ENSP00000490348.1:n.83-4308A=
ENST00000637892.1:n.1251A=
ENST00000371068.9:c.1047A=	ENSP00000360107.4:p.Pro349=
ENST00000480623.5:c.*1467A=	ENSP00000434498.1:n.*1467A=
ENST00000538167.2:c.990A=	ENSP00000444521.1:p.Pro330=
NM_001172420.1:c.990A=	NP_001165891.1:p.Pro330=
NM_018100.3:c.1047A=	NP_060570.2:p.Pro349=
NR_033327.1:n.2519A=
NM_018100.4:c.1047A= MANE Select	NP_060570.2:p.Pro349=
NM_001172420.2:c.990A=	NP_001165891.1:p.Pro330=
NR_033327.2:n.2373A=