Canonical Allele Identifier: CA314420

Gene: EFHC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454197C>G , CM000668.2:g.52454197C>G	GRCh38
NC_000006.11:g.52318995C>G , CM000668.1:g.52318995C>G	GRCh37
NC_000006.10:g.52426954C>G	NCBI36
NG_016760.1:g.39002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.826C>G MANE Select	ENSP00000360107.4:p.Arg276Gly
ENST00000480623.6:c.826C>G	ENSP00000434498.2:p.Arg276Gly
ENST00000635760.1:c.502C>G	ENSP00000489765.1:p.Arg168Gly
ENST00000635812.1:c.*127C>G	ENSP00000490859.1:n.*127C>G
ENST00000635866.1:c.*695C>G	ENSP00000489866.1:n.*695C>G
ENST00000635911.1:n.2344C>G
ENST00000635984.1:c.502C>G	ENSP00000489921.1:p.Arg168Gly
ENST00000635996.1:c.826C>G	ENSP00000490256.1:p.Arg276Gly
ENST00000636107.1:c.826C>G	ENSP00000489680.1:p.Arg276Gly
ENST00000636311.1:n.720C>G
ENST00000636343.1:c.492C>G
ENST00000636379.1:c.538C>G	ENSP00000490622.1:p.Arg180Gly
ENST00000636398.1:c.526C>G	ENSP00000489654.1:n.526C>G
ENST00000636489.1:c.769C>G	ENSP00000489998.1:p.Arg257Gly
ENST00000636616.1:n.442C>G
ENST00000636702.1:c.796C>G	ENSP00000489623.1:p.Arg266Gly
ENST00000636954.1:c.769C>G	ENSP00000489966.1:p.Arg257Gly
ENST00000637089.1:c.826C>G	ENSP00000489854.1:p.Arg276Gly
ENST00000637263.1:c.826C>G	ENSP00000489700.1:p.Arg276Gly
ENST00000637340.1:n.2751C>G
ENST00000637353.1:c.826C>G	ENSP00000490441.1:p.Arg276Gly
ENST00000637602.1:c.*527C>G	ENSP00000490074.1:n.*527C>G
ENST00000637849.1:n.890C>G
ENST00000637892.1:n.1030C>G
ENST00000371068.9:c.826C>G	ENSP00000360107.4:p.Arg276Gly
ENST00000480623.5:c.*1246C>G	ENSP00000434498.1:n.*1246C>G
ENST00000538167.2:c.769C>G	ENSP00000444521.1:p.Arg257Gly
NM_001172420.1:c.769C>G	NP_001165891.1:p.Arg257Gly
NM_018100.3:c.826C>G	NP_060570.2:p.Arg276Gly
NR_033327.1:n.2298C>G
NM_018100.4:c.826C>G MANE Select	NP_060570.2:p.Arg276Gly
NM_001172420.2:c.769C>G	NP_001165891.1:p.Arg257Gly
NR_033327.2:n.2152C>G