Canonical Allele Identifier: CA1628826021
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52465007C= , CM000668.2:g.52465007C= GRCh38
NC_000006.11:g.52329805C= , CM000668.1:g.52329805C= GRCh37
NC_000006.10:g.52437764C= NCBI36
NG_016760.1:g.49812C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1029C= MANE Select ENSP00000360107.4:p.Phe343=
ENST00000480623.6:c.1029C= ENSP00000434498.2:p.Phe343=
ENST00000635760.1:c.705C= ENSP00000489765.1:p.Phe235=
ENST00000635812.1:c.*330C= ENSP00000490859.1:n.*330C=
ENST00000635866.1:c.*898C= ENSP00000489866.1:n.*898C=
ENST00000635911.1:n.2547C=
ENST00000635984.1:c.705C= ENSP00000489921.1:p.Phe235=
ENST00000635996.1:c.1029C= ENSP00000490256.1:p.Phe343=
ENST00000636107.1:c.1029C= ENSP00000489680.1:p.Phe343=
ENST00000636311.1:n.923C=
ENST00000636343.1:c.695C=
ENST00000636379.1:c.741C= ENSP00000490622.1:p.Phe247=
ENST00000636398.1:c.729C= ENSP00000489654.1:n.729C=
ENST00000636489.1:c.972C= ENSP00000489998.1:p.Phe324=
ENST00000636616.1:n.645C=
ENST00000636702.1:c.999C= ENSP00000489623.1:p.Phe333=
ENST00000636954.1:c.972C= ENSP00000489966.1:p.Phe324=
ENST00000637089.1:c.1029C= ENSP00000489854.1:p.Phe343=
ENST00000637263.1:c.1029C= ENSP00000489700.1:p.Phe343=
ENST00000637340.1:n.2954C=
ENST00000637353.1:c.1029C= ENSP00000490441.1:p.Phe343=
ENST00000637602.1:c.*730C= ENSP00000490074.1:n.*730C=
ENST00000637849.1:n.1093C=
ENST00000637874.1:c.83-4326C= ENSP00000490348.1:n.83-4326C=
ENST00000637892.1:n.1233C=
ENST00000371068.9:c.1029C= ENSP00000360107.4:p.Phe343=
ENST00000480623.5:c.*1449C= ENSP00000434498.1:n.*1449C=
ENST00000538167.2:c.972C= ENSP00000444521.1:p.Phe324=
NM_001172420.1:c.972C= NP_001165891.1:p.Phe324=
NM_018100.3:c.1029C= NP_060570.2:p.Phe343=
NR_033327.1:n.2501C=
NM_018100.4:c.1029C= MANE Select NP_060570.2:p.Phe343=
NM_001172420.2:c.972C= NP_001165891.1:p.Phe324=
NR_033327.2:n.2355C=