Canonical Allele Identifier: CA1628826016
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52464987A= , CM000668.2:g.52464987A= GRCh38
NC_000006.11:g.52329785A= , CM000668.1:g.52329785A= GRCh37
NC_000006.10:g.52437744A= NCBI36
NG_016760.1:g.49792A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1009A= MANE Select ENSP00000360107.4:p.Ile337=
ENST00000480623.6:c.1009A= ENSP00000434498.2:p.Ile337=
ENST00000635760.1:c.685A= ENSP00000489765.1:p.Ile229=
ENST00000635812.1:c.*310A= ENSP00000490859.1:n.*310A=
ENST00000635866.1:c.*878A= ENSP00000489866.1:n.*878A=
ENST00000635911.1:n.2527A=
ENST00000635984.1:c.685A= ENSP00000489921.1:p.Ile229=
ENST00000635996.1:c.1009A= ENSP00000490256.1:p.Ile337=
ENST00000636107.1:c.1009A= ENSP00000489680.1:p.Ile337=
ENST00000636311.1:n.903A=
ENST00000636343.1:c.675A=
ENST00000636379.1:c.721A= ENSP00000490622.1:p.Ile241=
ENST00000636398.1:c.709A= ENSP00000489654.1:n.709A=
ENST00000636489.1:c.952A= ENSP00000489998.1:p.Ile318=
ENST00000636616.1:n.625A=
ENST00000636702.1:c.979A= ENSP00000489623.1:p.Ile327=
ENST00000636954.1:c.952A= ENSP00000489966.1:p.Ile318=
ENST00000637089.1:c.1009A= ENSP00000489854.1:p.Ile337=
ENST00000637263.1:c.1009A= ENSP00000489700.1:p.Ile337=
ENST00000637340.1:n.2934A=
ENST00000637353.1:c.1009A= ENSP00000490441.1:p.Ile337=
ENST00000637602.1:c.*710A= ENSP00000490074.1:n.*710A=
ENST00000637849.1:n.1073A=
ENST00000637874.1:c.83-4346A= ENSP00000490348.1:n.83-4346A=
ENST00000637892.1:n.1213A=
ENST00000371068.9:c.1009A= ENSP00000360107.4:p.Ile337=
ENST00000480623.5:c.*1429A= ENSP00000434498.1:n.*1429A=
ENST00000538167.2:c.952A= ENSP00000444521.1:p.Ile318=
NM_001172420.1:c.952A= NP_001165891.1:p.Ile318=
NM_018100.3:c.1009A= NP_060570.2:p.Ile337=
NR_033327.1:n.2481A=
NM_018100.4:c.1009A= MANE Select NP_060570.2:p.Ile337=
NM_001172420.2:c.952A= NP_001165891.1:p.Ile318=
NR_033327.2:n.2335A=