Canonical Allele Identifier: CA364455695
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52465024C>A , CM000668.2:g.52465024C>A GRCh38
NC_000006.11:g.52329822C>A , CM000668.1:g.52329822C>A GRCh37
NC_000006.10:g.52437781C>A NCBI36
NG_016760.1:g.49829C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1046C>A MANE Select ENSP00000360107.4:p.Pro349Gln
ENST00000480623.6:c.1046C>A ENSP00000434498.2:p.Pro349Gln
ENST00000635760.1:c.722C>A ENSP00000489765.1:p.Pro241Gln
ENST00000635812.1:c.*347C>A ENSP00000490859.1:n.*347C>A
ENST00000635866.1:c.*915C>A ENSP00000489866.1:n.*915C>A
ENST00000635911.1:n.2564C>A
ENST00000635984.1:c.722C>A ENSP00000489921.1:p.Pro241Gln
ENST00000635996.1:c.1046C>A ENSP00000490256.1:p.Pro349Gln
ENST00000636107.1:c.1046C>A ENSP00000489680.1:p.Pro349Gln
ENST00000636311.1:n.940C>A
ENST00000636343.1:c.712C>A
ENST00000636379.1:c.758C>A ENSP00000490622.1:p.Pro253Gln
ENST00000636398.1:c.746C>A ENSP00000489654.1:n.746C>A
ENST00000636489.1:c.989C>A ENSP00000489998.1:p.Pro330Gln
ENST00000636616.1:n.662C>A
ENST00000636702.1:c.1016C>A ENSP00000489623.1:p.Pro339Gln
ENST00000636954.1:c.989C>A ENSP00000489966.1:p.Pro330Gln
ENST00000637089.1:c.1046C>A ENSP00000489854.1:p.Pro349Gln
ENST00000637263.1:c.1046C>A ENSP00000489700.1:p.Pro349Gln
ENST00000637340.1:n.2971C>A
ENST00000637353.1:c.1046C>A ENSP00000490441.1:p.Pro349Gln
ENST00000637602.1:c.*747C>A ENSP00000490074.1:n.*747C>A
ENST00000637849.1:n.1110C>A
ENST00000637874.1:c.83-4309C>A ENSP00000490348.1:n.83-4309C>A
ENST00000637892.1:n.1250C>A
ENST00000371068.9:c.1046C>A ENSP00000360107.4:p.Pro349Gln
ENST00000480623.5:c.*1466C>A ENSP00000434498.1:n.*1466C>A
ENST00000538167.2:c.989C>A ENSP00000444521.1:p.Pro330Gln
NM_001172420.1:c.989C>A NP_001165891.1:p.Pro330Gln
NM_018100.3:c.1046C>A NP_060570.2:p.Pro349Gln
NR_033327.1:n.2518C>A
NM_018100.4:c.1046C>A MANE Select NP_060570.2:p.Pro349Gln
NM_001172420.2:c.989C>A NP_001165891.1:p.Pro330Gln
NR_033327.2:n.2372C>A