Canonical Allele Identifier: CA364455540
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52464954G>T , CM000668.2:g.52464954G>T GRCh38
NC_000006.11:g.52329752G>T , CM000668.1:g.52329752G>T GRCh37
NC_000006.10:g.52437711G>T NCBI36
NG_016760.1:g.49759G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.976G>T MANE Select ENSP00000360107.4:p.Ala326Ser
ENST00000480623.6:c.976G>T ENSP00000434498.2:p.Ala326Ser
ENST00000635760.1:c.652G>T ENSP00000489765.1:p.Ala218Ser
ENST00000635812.1:c.*277G>T ENSP00000490859.1:n.*277G>T
ENST00000635866.1:c.*845G>T ENSP00000489866.1:n.*845G>T
ENST00000635911.1:n.2494G>T
ENST00000635984.1:c.652G>T ENSP00000489921.1:p.Ala218Ser
ENST00000635996.1:c.976G>T ENSP00000490256.1:p.Ala326Ser
ENST00000636107.1:c.976G>T ENSP00000489680.1:p.Ala326Ser
ENST00000636311.1:n.870G>T
ENST00000636343.1:c.642G>T
ENST00000636379.1:c.688G>T ENSP00000490622.1:p.Ala230Ser
ENST00000636398.1:c.676G>T ENSP00000489654.1:n.676G>T
ENST00000636489.1:c.919G>T ENSP00000489998.1:p.Ala307Ser
ENST00000636616.1:n.592G>T
ENST00000636702.1:c.946G>T ENSP00000489623.1:p.Ala316Ser
ENST00000636954.1:c.919G>T ENSP00000489966.1:p.Ala307Ser
ENST00000637089.1:c.976G>T ENSP00000489854.1:p.Ala326Ser
ENST00000637263.1:c.976G>T ENSP00000489700.1:p.Ala326Ser
ENST00000637340.1:n.2901G>T
ENST00000637353.1:c.976G>T ENSP00000490441.1:p.Ala326Ser
ENST00000637602.1:c.*677G>T ENSP00000490074.1:n.*677G>T
ENST00000637849.1:n.1040G>T
ENST00000637874.1:c.83-4379G>T ENSP00000490348.1:n.83-4379G>T
ENST00000637892.1:n.1180G>T
ENST00000371068.9:c.976G>T ENSP00000360107.4:p.Ala326Ser
ENST00000480623.5:c.*1396G>T ENSP00000434498.1:n.*1396G>T
ENST00000538167.2:c.919G>T ENSP00000444521.1:p.Ala307Ser
NM_001172420.1:c.919G>T NP_001165891.1:p.Ala307Ser
NM_018100.3:c.976G>T NP_060570.2:p.Ala326Ser
NR_033327.1:n.2448G>T
NM_018100.4:c.976G>T MANE Select NP_060570.2:p.Ala326Ser
NM_001172420.2:c.919G>T NP_001165891.1:p.Ala307Ser
NR_033327.2:n.2302G>T