Canonical Allele Identifier: CA364452616

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454125A>G , CM000668.2:g.52454125A>G	GRCh38
NC_000006.11:g.52318923A>G , CM000668.1:g.52318923A>G	GRCh37
NC_000006.10:g.52426882A>G	NCBI36
NG_016760.1:g.38930A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.754A>G MANE Select	ENSP00000360107.4:p.Thr252Ala
ENST00000480623.6:c.754A>G	ENSP00000434498.2:p.Thr252Ala
ENST00000635760.1:c.430A>G	ENSP00000489765.1:p.Thr144Ala
ENST00000635812.1:c.*55A>G	ENSP00000490859.1:n.*55A>G
ENST00000635866.1:c.*623A>G	ENSP00000489866.1:n.*623A>G
ENST00000635911.1:n.2272A>G
ENST00000635984.1:c.430A>G	ENSP00000489921.1:p.Thr144Ala
ENST00000635996.1:c.754A>G	ENSP00000490256.1:p.Thr252Ala
ENST00000636107.1:c.754A>G	ENSP00000489680.1:p.Thr252Ala
ENST00000636311.1:n.648A>G
ENST00000636343.1:c.420A>G
ENST00000636379.1:c.466A>G	ENSP00000490622.1:p.Thr156Ala
ENST00000636398.1:c.454A>G	ENSP00000489654.1:n.454A>G
ENST00000636489.1:c.697A>G	ENSP00000489998.1:p.Thr233Ala
ENST00000636616.1:n.370A>G
ENST00000636702.1:c.724A>G	ENSP00000489623.1:p.Thr242Ala
ENST00000636954.1:c.697A>G	ENSP00000489966.1:p.Thr233Ala
ENST00000637089.1:c.754A>G	ENSP00000489854.1:p.Thr252Ala
ENST00000637263.1:c.754A>G	ENSP00000489700.1:p.Thr252Ala
ENST00000637340.1:n.2679A>G
ENST00000637353.1:c.754A>G	ENSP00000490441.1:p.Thr252Ala
ENST00000637602.1:c.*455A>G	ENSP00000490074.1:n.*455A>G
ENST00000637849.1:n.818A>G
ENST00000637892.1:n.958A>G
ENST00000371068.9:c.754A>G	ENSP00000360107.4:p.Thr252Ala
ENST00000480623.5:c.*1174A>G	ENSP00000434498.1:n.*1174A>G
ENST00000538167.2:c.697A>G	ENSP00000444521.1:p.Thr233Ala
NM_001172420.1:c.697A>G	NP_001165891.1:p.Thr233Ala
NM_018100.3:c.754A>G	NP_060570.2:p.Thr252Ala
NR_033327.1:n.2226A>G
NM_018100.4:c.754A>G MANE Select	NP_060570.2:p.Thr252Ala
NM_001172420.2:c.697A>G	NP_001165891.1:p.Thr233Ala
NR_033327.2:n.2080A>G