Canonical Allele Identifier: CA1628825990

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464925C= , CM000668.2:g.52464925C=	GRCh38
NC_000006.11:g.52329723C= , CM000668.1:g.52329723C=	GRCh37
NC_000006.10:g.52437682C=	NCBI36
NG_016760.1:g.49730C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.947C= MANE Select	ENSP00000360107.4:p.Ser316=
ENST00000480623.6:c.947C=	ENSP00000434498.2:p.Ser316=
ENST00000635760.1:c.623C=	ENSP00000489765.1:p.Ser208=
ENST00000635812.1:c.*248C=	ENSP00000490859.1:n.*248C=
ENST00000635866.1:c.*816C=	ENSP00000489866.1:n.*816C=
ENST00000635911.1:n.2465C=
ENST00000635984.1:c.623C=	ENSP00000489921.1:p.Ser208=
ENST00000635996.1:c.947C=	ENSP00000490256.1:p.Ser316=
ENST00000636107.1:c.947C=	ENSP00000489680.1:p.Ser316=
ENST00000636311.1:n.841C=
ENST00000636343.1:c.613C=
ENST00000636379.1:c.659C=	ENSP00000490622.1:p.Ser220=
ENST00000636398.1:c.647C=	ENSP00000489654.1:n.647C=
ENST00000636489.1:c.890C=	ENSP00000489998.1:p.Ser297=
ENST00000636616.1:n.563C=
ENST00000636702.1:c.917C=	ENSP00000489623.1:p.Ser306=
ENST00000636954.1:c.890C=	ENSP00000489966.1:p.Ser297=
ENST00000637089.1:c.947C=	ENSP00000489854.1:p.Ser316=
ENST00000637263.1:c.947C=	ENSP00000489700.1:p.Ser316=
ENST00000637340.1:n.2872C=
ENST00000637353.1:c.947C=	ENSP00000490441.1:p.Ser316=
ENST00000637602.1:c.*648C=	ENSP00000490074.1:n.*648C=
ENST00000637849.1:n.1011C=
ENST00000637874.1:c.83-4408C=	ENSP00000490348.1:n.83-4408C=
ENST00000637892.1:n.1151C=
ENST00000371068.9:c.947C=	ENSP00000360107.4:p.Ser316=
ENST00000480623.5:c.*1367C=	ENSP00000434498.1:n.*1367C=
ENST00000538167.2:c.890C=	ENSP00000444521.1:p.Ser297=
NM_001172420.1:c.890C=	NP_001165891.1:p.Ser297=
NM_018100.3:c.947C=	NP_060570.2:p.Ser316=
NR_033327.1:n.2419C=
NM_018100.4:c.947C= MANE Select	NP_060570.2:p.Ser316=
NM_001172420.2:c.890C=	NP_001165891.1:p.Ser297=
NR_033327.2:n.2273C=