Canonical Allele Identifier: CA364455565
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52464965C>A , CM000668.2:g.52464965C>A GRCh38
NC_000006.11:g.52329763C>A , CM000668.1:g.52329763C>A GRCh37
NC_000006.10:g.52437722C>A NCBI36
NG_016760.1:g.49770C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.987C>A MANE Select ENSP00000360107.4:p.Phe329Leu
ENST00000480623.6:c.987C>A ENSP00000434498.2:p.Phe329Leu
ENST00000635760.1:c.663C>A ENSP00000489765.1:p.Phe221Leu
ENST00000635812.1:c.*288C>A ENSP00000490859.1:n.*288C>A
ENST00000635866.1:c.*856C>A ENSP00000489866.1:n.*856C>A
ENST00000635911.1:n.2505C>A
ENST00000635984.1:c.663C>A ENSP00000489921.1:p.Phe221Leu
ENST00000635996.1:c.987C>A ENSP00000490256.1:p.Phe329Leu
ENST00000636107.1:c.987C>A ENSP00000489680.1:p.Phe329Leu
ENST00000636311.1:n.881C>A
ENST00000636343.1:c.653C>A
ENST00000636379.1:c.699C>A ENSP00000490622.1:p.Phe233Leu
ENST00000636398.1:c.687C>A ENSP00000489654.1:n.687C>A
ENST00000636489.1:c.930C>A ENSP00000489998.1:p.Phe310Leu
ENST00000636616.1:n.603C>A
ENST00000636702.1:c.957C>A ENSP00000489623.1:p.Phe319Leu
ENST00000636954.1:c.930C>A ENSP00000489966.1:p.Phe310Leu
ENST00000637089.1:c.987C>A ENSP00000489854.1:p.Phe329Leu
ENST00000637263.1:c.987C>A ENSP00000489700.1:p.Phe329Leu
ENST00000637340.1:n.2912C>A
ENST00000637353.1:c.987C>A ENSP00000490441.1:p.Phe329Leu
ENST00000637602.1:c.*688C>A ENSP00000490074.1:n.*688C>A
ENST00000637849.1:n.1051C>A
ENST00000637874.1:c.83-4368C>A ENSP00000490348.1:n.83-4368C>A
ENST00000637892.1:n.1191C>A
ENST00000371068.9:c.987C>A ENSP00000360107.4:p.Phe329Leu
ENST00000480623.5:c.*1407C>A ENSP00000434498.1:n.*1407C>A
ENST00000538167.2:c.930C>A ENSP00000444521.1:p.Phe310Leu
NM_001172420.1:c.930C>A NP_001165891.1:p.Phe310Leu
NM_018100.3:c.987C>A NP_060570.2:p.Phe329Leu
NR_033327.1:n.2459C>A
NM_018100.4:c.987C>A MANE Select NP_060570.2:p.Phe329Leu
NM_001172420.2:c.930C>A NP_001165891.1:p.Phe310Leu
NR_033327.2:n.2313C>A