Canonical Allele Identifier: CA1628799665
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52438538A= , CM000668.2:g.52438538A= GRCh38
NC_000006.11:g.52303336A= , CM000668.1:g.52303336A= GRCh37
NC_000006.10:g.52411295A= NCBI36
NG_016760.1:g.23343A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.520A= MANE Select ENSP00000360107.4:p.Ile174=
ENST00000480623.6:c.520A= ENSP00000434498.2:p.Ile174=
ENST00000635760.1:c.196A= ENSP00000489765.1:p.Ile66=
ENST00000635812.1:c.520A= ENSP00000490859.1:p.Ile174=
ENST00000635866.1:c.*389A= ENSP00000489866.1:n.*389A=
ENST00000635911.1:n.781A=
ENST00000635984.1:c.196A= ENSP00000489921.1:p.Ile66=
ENST00000635996.1:c.520A= ENSP00000490256.1:p.Ile174=
ENST00000636107.1:c.520A= ENSP00000489680.1:p.Ile174=
ENST00000636253.1:n.174A=
ENST00000636311.1:n.467+84A=
ENST00000636343.1:c.186A=
ENST00000636379.1:c.286-14150A= ENSP00000490622.1:n.286-14150A=
ENST00000636398.1:c.187A= ENSP00000489654.1:p.Ile63=
ENST00000636489.1:c.463A= ENSP00000489998.1:p.Ile155=
ENST00000636566.1:c.196A= ENSP00000490602.1:p.Ile66=
ENST00000636702.1:c.490A= ENSP00000489623.1:p.Ile164=
ENST00000636954.1:c.463A= ENSP00000489966.1:p.Ile155=
ENST00000637089.1:c.520A= ENSP00000489854.1:p.Ile174=
ENST00000637200.1:c.*536A= ENSP00000490567.1:n.*536A=
ENST00000637263.1:c.520A= ENSP00000489700.1:p.Ile174=
ENST00000637340.1:n.1188A=
ENST00000637353.1:c.520A= ENSP00000490441.1:p.Ile174=
ENST00000637602.1:c.*221A= ENSP00000490074.1:n.*221A=
ENST00000637849.1:n.584A=
ENST00000637892.1:n.724A=
ENST00000638075.1:c.-99A= ENSP00000490711.1:n.-99A=
ENST00000371068.9:c.520A= ENSP00000360107.4:p.Ile174=
ENST00000480623.5:c.520A= ENSP00000434498.1:p.Ile174=
ENST00000491749.1:n.879A=
ENST00000538167.2:c.463A= ENSP00000444521.1:p.Ile155=
NM_001172420.1:c.463A= NP_001165891.1:p.Ile155=
NM_018100.3:c.520A= NP_060570.2:p.Ile174=
NR_033327.1:n.735A=
NM_018100.4:c.520A= MANE Select NP_060570.2:p.Ile174=
NM_001172420.2:c.463A= NP_001165891.1:p.Ile155=
NR_033327.2:n.589A=