Canonical Allele Identifier: CA1628833415

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479786A= , CM000668.2:g.52479786A=	GRCh38
NC_000006.11:g.52344584A= , CM000668.1:g.52344584A=	GRCh37
NC_000006.10:g.52452543A=	NCBI36
NG_016760.1:g.64591A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1639A= MANE Select	ENSP00000360107.4:p.Ser547=
ENST00000480623.6:c.1639A=	ENSP00000434498.2:p.Arg547=
ENST00000635760.1:c.1315A=	ENSP00000489765.1:p.Ser439=
ENST00000635812.1:c.*940A=	ENSP00000490859.1:n.*940A=
ENST00000635866.1:c.*1508A=	ENSP00000489866.1:n.*1508A=
ENST00000635911.1:n.3157A=
ENST00000635984.1:c.1315A=	ENSP00000489921.1:p.Arg439=
ENST00000635996.1:c.1639A=	ENSP00000490256.1:p.Ser547=
ENST00000636107.1:c.1639A=	ENSP00000489680.1:p.Arg547=
ENST00000636311.1:n.1533A=
ENST00000636343.1:c.1305A=
ENST00000636379.1:c.1351A=	ENSP00000490622.1:p.Ser451=
ENST00000636398.1:c.1339A=	ENSP00000489654.1:n.1339A=
ENST00000636489.1:c.1582A=	ENSP00000489998.1:p.Ser528=
ENST00000636616.1:n.1200A=
ENST00000636702.1:c.1609A=	ENSP00000489623.1:p.Ser537=
ENST00000636954.1:c.1582A=	ENSP00000489966.1:p.Ser528=
ENST00000637089.1:c.1639A=	ENSP00000489854.1:p.Ser547=
ENST00000637121.1:n.1441A=
ENST00000637263.1:c.1639A=	ENSP00000489700.1:p.Arg547=
ENST00000637340.1:n.3564A=
ENST00000637353.1:c.1639A=	ENSP00000490441.1:p.Ser547=
ENST00000637602.1:c.*1340A=	ENSP00000490074.1:n.*1340A=
ENST00000637849.1:n.1703A=
ENST00000637892.1:n.1843A=
ENST00000371068.9:c.1639A=	ENSP00000360107.4:p.Ser547=
ENST00000480623.5:c.*2059A=	ENSP00000434498.1:n.*2059A=
ENST00000538167.2:c.1582A=	ENSP00000444521.1:p.Ser528=
NM_001172420.1:c.1582A=	NP_001165891.1:p.Ser528=
NM_018100.3:c.1639A=	NP_060570.2:p.Ser547=
NR_033327.1:n.3111A=
NM_018100.4:c.1639A= MANE Select	NP_060570.2:p.Ser547=
NM_001172420.2:c.1582A=	NP_001165891.1:p.Ser528=
NR_033327.2:n.2965A=