Canonical Allele Identifier: CA1628832586
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479156C= , CM000668.2:g.52479156C= GRCh38
NC_000006.11:g.52343954C= , CM000668.1:g.52343954C= GRCh37
NC_000006.10:g.52451913C= NCBI36
NG_016760.1:g.63961C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1398C= MANE Select ENSP00000360107.4:p.Tyr466=
ENST00000480623.6:c.1398C= ENSP00000434498.2:p.Tyr466=
ENST00000635760.1:c.1074C= ENSP00000489765.1:p.Tyr358=
ENST00000635812.1:c.*699C= ENSP00000490859.1:n.*699C=
ENST00000635866.1:c.*1267C= ENSP00000489866.1:n.*1267C=
ENST00000635911.1:n.2916C=
ENST00000635984.1:c.1074C= ENSP00000489921.1:p.Tyr358=
ENST00000635996.1:c.1398C= ENSP00000490256.1:p.Tyr466=
ENST00000636107.1:c.1398C= ENSP00000489680.1:p.Tyr466=
ENST00000636311.1:n.1292C=
ENST00000636343.1:c.1064C=
ENST00000636379.1:c.1110C= ENSP00000490622.1:p.Tyr370=
ENST00000636398.1:c.1098C= ENSP00000489654.1:n.1098C=
ENST00000636489.1:c.1341C= ENSP00000489998.1:p.Tyr447=
ENST00000636616.1:n.959C=
ENST00000636702.1:c.1368C= ENSP00000489623.1:p.Tyr456=
ENST00000636954.1:c.1341C= ENSP00000489966.1:p.Tyr447=
ENST00000637089.1:c.1398C= ENSP00000489854.1:p.Tyr466=
ENST00000637121.1:n.1200C=
ENST00000637263.1:c.1398C= ENSP00000489700.1:p.Tyr466=
ENST00000637340.1:n.3323C=
ENST00000637353.1:c.1398C= ENSP00000490441.1:p.Tyr466=
ENST00000637602.1:c.*1099C= ENSP00000490074.1:n.*1099C=
ENST00000637849.1:n.1462C=
ENST00000637874.1:c.343C= ENSP00000490348.1:n.343C=
ENST00000637892.1:n.1602C=
ENST00000371068.9:c.1398C= ENSP00000360107.4:p.Tyr466=
ENST00000480623.5:c.*1818C= ENSP00000434498.1:n.*1818C=
ENST00000538167.2:c.1341C= ENSP00000444521.1:p.Tyr447=
NM_001172420.1:c.1341C= NP_001165891.1:p.Tyr447=
NM_018100.3:c.1398C= NP_060570.2:p.Tyr466=
NR_033327.1:n.2870C=
NM_018100.4:c.1398C= MANE Select NP_060570.2:p.Tyr466=
NM_001172420.2:c.1341C= NP_001165891.1:p.Tyr447=
NR_033327.2:n.2724C=