Canonical Allele Identifier: CA1628833328

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479741C= , CM000668.2:g.52479741C=	GRCh38
NC_000006.11:g.52344539C= , CM000668.1:g.52344539C=	GRCh37
NC_000006.10:g.52452498C=	NCBI36
NG_016760.1:g.64546C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1594C= MANE Select	ENSP00000360107.4:p.Gln532=
ENST00000480623.6:c.1594C=	ENSP00000434498.2:p.Gln532=
ENST00000635760.1:c.1270C=	ENSP00000489765.1:p.Gln424=
ENST00000635812.1:c.*895C=	ENSP00000490859.1:n.*895C=
ENST00000635866.1:c.*1463C=	ENSP00000489866.1:n.*1463C=
ENST00000635911.1:n.3112C=
ENST00000635984.1:c.1270C=	ENSP00000489921.1:p.Gln424=
ENST00000635996.1:c.1594C=	ENSP00000490256.1:p.Gln532=
ENST00000636107.1:c.1594C=	ENSP00000489680.1:p.Gln532=
ENST00000636311.1:n.1488C=
ENST00000636343.1:c.1260C=
ENST00000636379.1:c.1306C=	ENSP00000490622.1:p.Gln436=
ENST00000636398.1:c.1294C=	ENSP00000489654.1:n.1294C=
ENST00000636489.1:c.1537C=	ENSP00000489998.1:p.Gln513=
ENST00000636616.1:n.1155C=
ENST00000636702.1:c.1564C=	ENSP00000489623.1:p.Gln522=
ENST00000636954.1:c.1537C=	ENSP00000489966.1:p.Gln513=
ENST00000637089.1:c.1594C=	ENSP00000489854.1:p.Gln532=
ENST00000637121.1:n.1396C=
ENST00000637263.1:c.1594C=	ENSP00000489700.1:p.Gln532=
ENST00000637340.1:n.3519C=
ENST00000637353.1:c.1594C=	ENSP00000490441.1:p.Gln532=
ENST00000637602.1:c.*1295C=	ENSP00000490074.1:n.*1295C=
ENST00000637849.1:n.1658C=
ENST00000637892.1:n.1798C=
ENST00000371068.9:c.1594C=	ENSP00000360107.4:p.Gln532=
ENST00000480623.5:c.*2014C=	ENSP00000434498.1:n.*2014C=
ENST00000538167.2:c.1537C=	ENSP00000444521.1:p.Gln513=
NM_001172420.1:c.1537C=	NP_001165891.1:p.Gln513=
NM_018100.3:c.1594C=	NP_060570.2:p.Gln532=
NR_033327.1:n.3066C=
NM_018100.4:c.1594C= MANE Select	NP_060570.2:p.Gln532=
NM_001172420.2:c.1537C=	NP_001165891.1:p.Gln513=
NR_033327.2:n.2920C=