Canonical Allele Identifier: CA450428099

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52490257T>C , CM000668.2:g.52490257T>C	GRCh38
NC_000006.11:g.52355055T>C , CM000668.1:g.52355055T>C	GRCh37
NC_000006.10:g.52463014T>C	NCBI36
NG_016760.1:g.75062T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.1758T>C MANE Select	NP_060570.2:p.Tyr586=
ENST00000371068.11:c.1758T>C MANE Select	ENSP00000360107.4:p.Tyr586=
NM_001172420.1:c.1701T>C	NP_001165891.1:p.Tyr567=
NM_001172420.2:c.1701T>C	NP_001165891.1:p.Tyr567=
NM_018100.3:c.1758T>C	NP_060570.2:p.Tyr586=
NR_033327.1:n.3230T>C
NR_033327.2:n.3084T>C
ENST00000371068.9:c.1758T>C	ENSP00000360107.4:p.Tyr586=
ENST00000480623.5:c.*2178T>C	ENSP00000434498.1:n.*2178T>C
ENST00000480623.6:c.*314T>C	ENSP00000434498.2:n.*314T>C
ENST00000481466.1:n.237T>C
ENST00000481466.2:n.143T>C
ENST00000538167.2:c.1701T>C	ENSP00000444521.1:p.Tyr567=
ENST00000635760.1:c.1434T>C	ENSP00000489765.1:p.Tyr478=
ENST00000635866.1:c.*1627T>C	ENSP00000489866.1:n.*1627T>C
ENST00000635911.1:n.3276T>C
ENST00000635996.1:c.1758T>C	ENSP00000490256.1:p.Tyr586=
ENST00000636311.1:n.1652T>C
ENST00000636343.1:c.1424T>C
ENST00000636379.1:c.1470T>C	ENSP00000490622.1:p.Tyr490=
ENST00000636398.1:c.1458T>C	ENSP00000489654.1:n.1458T>C
ENST00000636489.1:c.1701T>C	ENSP00000489998.1:p.Tyr567=
ENST00000636616.1:n.1319T>C
ENST00000636702.1:c.1728T>C	ENSP00000489623.1:p.Tyr576=
ENST00000636954.1:c.1701T>C	ENSP00000489966.1:p.Tyr567=
ENST00000637089.1:c.1758T>C	ENSP00000489854.1:p.Tyr586=
ENST00000637121.1:n.1560T>C
ENST00000637340.1:n.3683T>C
ENST00000637353.1:c.1758T>C	ENSP00000490441.1:p.Tyr586=
ENST00000637602.1:c.*1459T>C	ENSP00000490074.1:n.*1459T>C