Canonical Allele Identifier: CA364458199
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479749T>A , CM000668.2:g.52479749T>A GRCh38
NC_000006.11:g.52344547T>A , CM000668.1:g.52344547T>A GRCh37
NC_000006.10:g.52452506T>A NCBI36
NG_016760.1:g.64554T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1602T>A MANE Select ENSP00000360107.4:p.His534Gln
ENST00000480623.6:c.1602T>A ENSP00000434498.2:p.His534Gln
ENST00000635760.1:c.1278T>A ENSP00000489765.1:p.His426Gln
ENST00000635812.1:c.*903T>A ENSP00000490859.1:n.*903T>A
ENST00000635866.1:c.*1471T>A ENSP00000489866.1:n.*1471T>A
ENST00000635911.1:n.3120T>A
ENST00000635984.1:c.1278T>A ENSP00000489921.1:p.His426Gln
ENST00000635996.1:c.1602T>A ENSP00000490256.1:p.His534Gln
ENST00000636107.1:c.1602T>A ENSP00000489680.1:p.His534Gln
ENST00000636311.1:n.1496T>A
ENST00000636343.1:c.1268T>A
ENST00000636379.1:c.1314T>A ENSP00000490622.1:p.His438Gln
ENST00000636398.1:c.1302T>A ENSP00000489654.1:n.1302T>A
ENST00000636489.1:c.1545T>A ENSP00000489998.1:p.His515Gln
ENST00000636616.1:n.1163T>A
ENST00000636702.1:c.1572T>A ENSP00000489623.1:p.His524Gln
ENST00000636954.1:c.1545T>A ENSP00000489966.1:p.His515Gln
ENST00000637089.1:c.1602T>A ENSP00000489854.1:p.His534Gln
ENST00000637121.1:n.1404T>A
ENST00000637263.1:c.1602T>A ENSP00000489700.1:p.His534Gln
ENST00000637340.1:n.3527T>A
ENST00000637353.1:c.1602T>A ENSP00000490441.1:p.His534Gln
ENST00000637602.1:c.*1303T>A ENSP00000490074.1:n.*1303T>A
ENST00000637849.1:n.1666T>A
ENST00000637892.1:n.1806T>A
ENST00000371068.9:c.1602T>A ENSP00000360107.4:p.His534Gln
ENST00000480623.5:c.*2022T>A ENSP00000434498.1:n.*2022T>A
ENST00000538167.2:c.1545T>A ENSP00000444521.1:p.His515Gln
NM_001172420.1:c.1545T>A NP_001165891.1:p.His515Gln
NM_018100.3:c.1602T>A NP_060570.2:p.His534Gln
NR_033327.1:n.3074T>A
NM_018100.4:c.1602T>A MANE Select NP_060570.2:p.His534Gln
NM_001172420.2:c.1545T>A NP_001165891.1:p.His515Gln
NR_033327.2:n.2928T>A