Canonical Allele Identifier: CA1628833340

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479749T= , CM000668.2:g.52479749T=	GRCh38
NC_000006.11:g.52344547T= , CM000668.1:g.52344547T=	GRCh37
NC_000006.10:g.52452506T=	NCBI36
NG_016760.1:g.64554T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1602T= MANE Select	ENSP00000360107.4:p.His534=
ENST00000480623.6:c.1602T=	ENSP00000434498.2:p.His534=
ENST00000635760.1:c.1278T=	ENSP00000489765.1:p.His426=
ENST00000635812.1:c.*903T=	ENSP00000490859.1:n.*903T=
ENST00000635866.1:c.*1471T=	ENSP00000489866.1:n.*1471T=
ENST00000635911.1:n.3120T=
ENST00000635984.1:c.1278T=	ENSP00000489921.1:p.His426=
ENST00000635996.1:c.1602T=	ENSP00000490256.1:p.His534=
ENST00000636107.1:c.1602T=	ENSP00000489680.1:p.His534=
ENST00000636311.1:n.1496T=
ENST00000636343.1:c.1268T=
ENST00000636379.1:c.1314T=	ENSP00000490622.1:p.His438=
ENST00000636398.1:c.1302T=	ENSP00000489654.1:n.1302T=
ENST00000636489.1:c.1545T=	ENSP00000489998.1:p.His515=
ENST00000636616.1:n.1163T=
ENST00000636702.1:c.1572T=	ENSP00000489623.1:p.His524=
ENST00000636954.1:c.1545T=	ENSP00000489966.1:p.His515=
ENST00000637089.1:c.1602T=	ENSP00000489854.1:p.His534=
ENST00000637121.1:n.1404T=
ENST00000637263.1:c.1602T=	ENSP00000489700.1:p.His534=
ENST00000637340.1:n.3527T=
ENST00000637353.1:c.1602T=	ENSP00000490441.1:p.His534=
ENST00000637602.1:c.*1303T=	ENSP00000490074.1:n.*1303T=
ENST00000637849.1:n.1666T=
ENST00000637892.1:n.1806T=
ENST00000371068.9:c.1602T=	ENSP00000360107.4:p.His534=
ENST00000480623.5:c.*2022T=	ENSP00000434498.1:n.*2022T=
ENST00000538167.2:c.1545T=	ENSP00000444521.1:p.His515=
NM_001172420.1:c.1545T=	NP_001165891.1:p.His515=
NM_018100.3:c.1602T=	NP_060570.2:p.His534=
NR_033327.1:n.3074T=
NM_018100.4:c.1602T= MANE Select	NP_060570.2:p.His534=
NM_001172420.2:c.1545T=	NP_001165891.1:p.His515=
NR_033327.2:n.2928T=