Canonical Allele Identifier: CA364457022
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479077T>G , CM000668.2:g.52479077T>G GRCh38
NC_000006.11:g.52343875T>G , CM000668.1:g.52343875T>G GRCh37
NC_000006.10:g.52451834T>G NCBI36
NG_016760.1:g.63882T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1319T>G MANE Select ENSP00000360107.4:p.Phe440Cys
ENST00000480623.6:c.1319T>G ENSP00000434498.2:p.Phe440Cys
ENST00000635760.1:c.995T>G ENSP00000489765.1:p.Phe332Cys
ENST00000635812.1:c.*620T>G ENSP00000490859.1:n.*620T>G
ENST00000635866.1:c.*1188T>G ENSP00000489866.1:n.*1188T>G
ENST00000635911.1:n.2837T>G
ENST00000635984.1:c.995T>G ENSP00000489921.1:p.Phe332Cys
ENST00000635996.1:c.1319T>G ENSP00000490256.1:p.Phe440Cys
ENST00000636107.1:c.1319T>G ENSP00000489680.1:p.Phe440Cys
ENST00000636311.1:n.1213T>G
ENST00000636343.1:c.985T>G
ENST00000636379.1:c.1031T>G ENSP00000490622.1:p.Phe344Cys
ENST00000636398.1:c.1019T>G ENSP00000489654.1:n.1019T>G
ENST00000636489.1:c.1262T>G ENSP00000489998.1:p.Phe421Cys
ENST00000636616.1:n.895-15T>G
ENST00000636702.1:c.1289T>G ENSP00000489623.1:p.Phe430Cys
ENST00000636954.1:c.1262T>G ENSP00000489966.1:p.Phe421Cys
ENST00000637089.1:c.1319T>G ENSP00000489854.1:p.Phe440Cys
ENST00000637121.1:n.1121T>G
ENST00000637263.1:c.1319T>G ENSP00000489700.1:p.Phe440Cys
ENST00000637340.1:n.3244T>G
ENST00000637353.1:c.1319T>G ENSP00000490441.1:p.Phe440Cys
ENST00000637602.1:c.*1020T>G ENSP00000490074.1:n.*1020T>G
ENST00000637849.1:n.1383T>G
ENST00000637874.1:c.264T>G ENSP00000490348.1:n.264T>G
ENST00000637892.1:n.1523T>G
ENST00000371068.9:c.1319T>G ENSP00000360107.4:p.Phe440Cys
ENST00000480623.5:c.*1739T>G ENSP00000434498.1:n.*1739T>G
ENST00000538167.2:c.1262T>G ENSP00000444521.1:p.Phe421Cys
NM_001172420.1:c.1262T>G NP_001165891.1:p.Phe421Cys
NM_018100.3:c.1319T>G NP_060570.2:p.Phe440Cys
NR_033327.1:n.2791T>G
NM_018100.4:c.1319T>G MANE Select NP_060570.2:p.Phe440Cys
NM_001172420.2:c.1262T>G NP_001165891.1:p.Phe421Cys
NR_033327.2:n.2645T>G