Canonical Allele Identifier: CA364455527
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.970T>G MANE Select ENSP00000360107.4:p.Tyr324Asp
ENST00000480623.6:c.970T>G ENSP00000434498.2:p.Tyr324Asp
ENST00000635760.1:c.646T>G ENSP00000489765.1:p.Tyr216Asp
ENST00000635812.1:c.*271T>G ENSP00000490859.1:n.*271T>G
ENST00000635866.1:c.*839T>G ENSP00000489866.1:n.*839T>G
ENST00000635911.1:n.2488T>G
ENST00000635984.1:c.646T>G ENSP00000489921.1:p.Tyr216Asp
ENST00000635996.1:c.970T>G ENSP00000490256.1:p.Tyr324Asp
ENST00000636107.1:c.970T>G ENSP00000489680.1:p.Tyr324Asp
ENST00000636311.1:n.864T>G
ENST00000636343.1:c.636T>G
ENST00000636379.1:c.682T>G ENSP00000490622.1:p.Tyr228Asp
ENST00000636398.1:c.670T>G ENSP00000489654.1:n.670T>G
ENST00000636489.1:c.913T>G ENSP00000489998.1:p.Tyr305Asp
ENST00000636616.1:n.586T>G
ENST00000636702.1:c.940T>G ENSP00000489623.1:p.Tyr314Asp
ENST00000636954.1:c.913T>G ENSP00000489966.1:p.Tyr305Asp
ENST00000637089.1:c.970T>G ENSP00000489854.1:p.Tyr324Asp
ENST00000637263.1:c.970T>G ENSP00000489700.1:p.Tyr324Asp
ENST00000637340.1:n.2895T>G
ENST00000637353.1:c.970T>G ENSP00000490441.1:p.Tyr324Asp
ENST00000637602.1:c.*671T>G ENSP00000490074.1:n.*671T>G
ENST00000637849.1:n.1034T>G
ENST00000637874.1:c.83-4385T>G ENSP00000490348.1:n.83-4385T>G
ENST00000637892.1:n.1174T>G
ENST00000371068.9:c.970T>G ENSP00000360107.4:p.Tyr324Asp
ENST00000480623.5:c.*1390T>G ENSP00000434498.1:n.*1390T>G
ENST00000538167.2:c.913T>G ENSP00000444521.1:p.Tyr305Asp
NM_001172420.1:c.913T>G NP_001165891.1:p.Tyr305Asp
NM_018100.3:c.970T>G NP_060570.2:p.Tyr324Asp
NR_033327.1:n.2442T>G
NM_018100.4:c.970T>G MANE Select NP_060570.2:p.Tyr324Asp
NM_001172420.2:c.913T>G NP_001165891.1:p.Tyr305Asp
NR_033327.2:n.2296T>G