Canonical Allele Identifier: CA450422831

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454211A>G , CM000668.2:g.52454211A>G	GRCh38
NC_000006.11:g.52319009A>G , CM000668.1:g.52319009A>G	GRCh37
NC_000006.10:g.52426968A>G	NCBI36
NG_016760.1:g.39016A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.840A>G MANE Select	NP_060570.2:p.Glu280=
ENST00000371068.11:c.840A>G MANE Select	ENSP00000360107.4:p.Glu280=
NM_001172420.1:c.783A>G	NP_001165891.1:p.Glu261=
NM_001172420.2:c.783A>G	NP_001165891.1:p.Glu261=
NM_018100.3:c.840A>G	NP_060570.2:p.Glu280=
NR_033327.1:n.2312A>G
NR_033327.2:n.2166A>G
ENST00000371068.9:c.840A>G	ENSP00000360107.4:p.Glu280=
ENST00000480623.5:c.*1260A>G	ENSP00000434498.1:n.*1260A>G
ENST00000480623.6:c.840A>G	ENSP00000434498.2:p.Glu280=
ENST00000538167.2:c.783A>G	ENSP00000444521.1:p.Glu261=
ENST00000635760.1:c.516A>G	ENSP00000489765.1:p.Glu172=
ENST00000635812.1:c.*141A>G	ENSP00000490859.1:n.*141A>G
ENST00000635866.1:c.*709A>G	ENSP00000489866.1:n.*709A>G
ENST00000635911.1:n.2358A>G
ENST00000635984.1:c.516A>G	ENSP00000489921.1:p.Glu172=
ENST00000635996.1:c.840A>G	ENSP00000490256.1:p.Glu280=
ENST00000636107.1:c.840A>G	ENSP00000489680.1:p.Glu280=
ENST00000636311.1:n.734A>G
ENST00000636343.1:c.506A>G
ENST00000636379.1:c.552A>G	ENSP00000490622.1:p.Glu184=
ENST00000636398.1:c.540A>G	ENSP00000489654.1:n.540A>G
ENST00000636489.1:c.783A>G	ENSP00000489998.1:p.Glu261=
ENST00000636616.1:n.456A>G
ENST00000636702.1:c.810A>G	ENSP00000489623.1:p.Glu270=
ENST00000636954.1:c.783A>G	ENSP00000489966.1:p.Glu261=
ENST00000637089.1:c.840A>G	ENSP00000489854.1:p.Glu280=
ENST00000637263.1:c.840A>G	ENSP00000489700.1:p.Glu280=
ENST00000637340.1:n.2765A>G
ENST00000637353.1:c.840A>G	ENSP00000490441.1:p.Glu280=
ENST00000637602.1:c.*541A>G	ENSP00000490074.1:n.*541A>G
ENST00000637849.1:n.904A>G
ENST00000637874.1:c.6A>G	ENSP00000490348.1:p.Glu2=
ENST00000637892.1:n.1044A>G