Canonical Allele Identifier: CA364455525
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52464948T>A , CM000668.2:g.52464948T>A GRCh38
NC_000006.11:g.52329746T>A , CM000668.1:g.52329746T>A GRCh37
NC_000006.10:g.52437705T>A NCBI36
NG_016760.1:g.49753T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.970T>A MANE Select ENSP00000360107.4:p.Tyr324Asn
ENST00000480623.6:c.970T>A ENSP00000434498.2:p.Tyr324Asn
ENST00000635760.1:c.646T>A ENSP00000489765.1:p.Tyr216Asn
ENST00000635812.1:c.*271T>A ENSP00000490859.1:n.*271T>A
ENST00000635866.1:c.*839T>A ENSP00000489866.1:n.*839T>A
ENST00000635911.1:n.2488T>A
ENST00000635984.1:c.646T>A ENSP00000489921.1:p.Tyr216Asn
ENST00000635996.1:c.970T>A ENSP00000490256.1:p.Tyr324Asn
ENST00000636107.1:c.970T>A ENSP00000489680.1:p.Tyr324Asn
ENST00000636311.1:n.864T>A
ENST00000636343.1:c.636T>A
ENST00000636379.1:c.682T>A ENSP00000490622.1:p.Tyr228Asn
ENST00000636398.1:c.670T>A ENSP00000489654.1:n.670T>A
ENST00000636489.1:c.913T>A ENSP00000489998.1:p.Tyr305Asn
ENST00000636616.1:n.586T>A
ENST00000636702.1:c.940T>A ENSP00000489623.1:p.Tyr314Asn
ENST00000636954.1:c.913T>A ENSP00000489966.1:p.Tyr305Asn
ENST00000637089.1:c.970T>A ENSP00000489854.1:p.Tyr324Asn
ENST00000637263.1:c.970T>A ENSP00000489700.1:p.Tyr324Asn
ENST00000637340.1:n.2895T>A
ENST00000637353.1:c.970T>A ENSP00000490441.1:p.Tyr324Asn
ENST00000637602.1:c.*671T>A ENSP00000490074.1:n.*671T>A
ENST00000637849.1:n.1034T>A
ENST00000637874.1:c.83-4385T>A ENSP00000490348.1:n.83-4385T>A
ENST00000637892.1:n.1174T>A
ENST00000371068.9:c.970T>A ENSP00000360107.4:p.Tyr324Asn
ENST00000480623.5:c.*1390T>A ENSP00000434498.1:n.*1390T>A
ENST00000538167.2:c.913T>A ENSP00000444521.1:p.Tyr305Asn
NM_001172420.1:c.913T>A NP_001165891.1:p.Tyr305Asn
NM_018100.3:c.970T>A NP_060570.2:p.Tyr324Asn
NR_033327.1:n.2442T>A
NM_018100.4:c.970T>A MANE Select NP_060570.2:p.Tyr324Asn
NM_001172420.2:c.913T>A NP_001165891.1:p.Tyr305Asn
NR_033327.2:n.2296T>A