Canonical Allele Identifier: CA1628820762

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452751A= , CM000668.2:g.52452751A=	GRCh38
NC_000006.11:g.52317549A= , CM000668.1:g.52317549A=	GRCh37
NC_000006.10:g.52425508A=	NCBI36
NG_016760.1:g.37556A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.637A= MANE Select	ENSP00000360107.4:p.Thr213=
ENST00000480623.6:c.637A=	ENSP00000434498.2:p.Thr213=
ENST00000635760.1:c.313A=	ENSP00000489765.1:p.Thr105=
ENST00000635812.1:c.637A=	ENSP00000490859.1:p.Thr213=
ENST00000635866.1:c.*506A=	ENSP00000489866.1:n.*506A=
ENST00000635911.1:n.898A=
ENST00000635984.1:c.313A=	ENSP00000489921.1:p.Thr105=
ENST00000635996.1:c.637A=	ENSP00000490256.1:p.Thr213=
ENST00000636107.1:c.637A=	ENSP00000489680.1:p.Thr213=
ENST00000636253.1:n.291A=
ENST00000636311.1:n.531A=
ENST00000636343.1:c.303A=
ENST00000636379.1:c.349A=	ENSP00000490622.1:p.Thr117=
ENST00000636398.1:c.304A=	ENSP00000489654.1:p.Thr102=
ENST00000636489.1:c.580A=	ENSP00000489998.1:p.Thr194=
ENST00000636702.1:c.607A=	ENSP00000489623.1:p.Thr203=
ENST00000636954.1:c.580A=	ENSP00000489966.1:p.Thr194=
ENST00000637089.1:c.637A=	ENSP00000489854.1:p.Thr213=
ENST00000637200.1:c.*653A=	ENSP00000490567.1:n.*653A=
ENST00000637263.1:c.637A=	ENSP00000489700.1:p.Thr213=
ENST00000637340.1:n.1305A=
ENST00000637353.1:c.637A=	ENSP00000490441.1:p.Thr213=
ENST00000637602.1:c.*338A=	ENSP00000490074.1:n.*338A=
ENST00000637849.1:n.701A=
ENST00000637892.1:n.841A=
ENST00000638075.1:c.19A=	ENSP00000490711.1:p.Thr7=
ENST00000371068.9:c.637A=	ENSP00000360107.4:p.Thr213=
ENST00000480623.5:c.637A=	ENSP00000434498.1:p.Thr213=
ENST00000538167.2:c.580A=	ENSP00000444521.1:p.Thr194=
NM_001172420.1:c.580A=	NP_001165891.1:p.Thr194=
NM_018100.3:c.637A=	NP_060570.2:p.Thr213=
NR_033327.1:n.852A=
NM_018100.4:c.637A= MANE Select	NP_060570.2:p.Thr213=
NM_001172420.2:c.580A=	NP_001165891.1:p.Thr194=
NR_033327.2:n.706A=