Canonical Allele Identifier: CA364457346
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479152A>G , CM000668.2:g.52479152A>G GRCh38
NC_000006.11:g.52343950A>G , CM000668.1:g.52343950A>G GRCh37
NC_000006.10:g.52451909A>G NCBI36
NG_016760.1:g.63957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1394A>G MANE Select ENSP00000360107.4:p.Lys465Arg
ENST00000480623.6:c.1394A>G ENSP00000434498.2:p.Lys465Arg
ENST00000635760.1:c.1070A>G ENSP00000489765.1:p.Lys357Arg
ENST00000635812.1:c.*695A>G ENSP00000490859.1:n.*695A>G
ENST00000635866.1:c.*1263A>G ENSP00000489866.1:n.*1263A>G
ENST00000635911.1:n.2912A>G
ENST00000635984.1:c.1070A>G ENSP00000489921.1:p.Lys357Arg
ENST00000635996.1:c.1394A>G ENSP00000490256.1:p.Lys465Arg
ENST00000636107.1:c.1394A>G ENSP00000489680.1:p.Lys465Arg
ENST00000636311.1:n.1288A>G
ENST00000636343.1:c.1060A>G
ENST00000636379.1:c.1106A>G ENSP00000490622.1:p.Lys369Arg
ENST00000636398.1:c.1094A>G ENSP00000489654.1:n.1094A>G
ENST00000636489.1:c.1337A>G ENSP00000489998.1:p.Lys446Arg
ENST00000636616.1:n.955A>G
ENST00000636702.1:c.1364A>G ENSP00000489623.1:p.Lys455Arg
ENST00000636954.1:c.1337A>G ENSP00000489966.1:p.Lys446Arg
ENST00000637089.1:c.1394A>G ENSP00000489854.1:p.Lys465Arg
ENST00000637121.1:n.1196A>G
ENST00000637263.1:c.1394A>G ENSP00000489700.1:p.Lys465Arg
ENST00000637340.1:n.3319A>G
ENST00000637353.1:c.1394A>G ENSP00000490441.1:p.Lys465Arg
ENST00000637602.1:c.*1095A>G ENSP00000490074.1:n.*1095A>G
ENST00000637849.1:n.1458A>G
ENST00000637874.1:c.339A>G ENSP00000490348.1:n.339A>G
ENST00000637892.1:n.1598A>G
ENST00000371068.9:c.1394A>G ENSP00000360107.4:p.Lys465Arg
ENST00000480623.5:c.*1814A>G ENSP00000434498.1:n.*1814A>G
ENST00000538167.2:c.1337A>G ENSP00000444521.1:p.Lys446Arg
NM_001172420.1:c.1337A>G NP_001165891.1:p.Lys446Arg
NM_018100.3:c.1394A>G NP_060570.2:p.Lys465Arg
NR_033327.1:n.2866A>G
NM_018100.4:c.1394A>G MANE Select NP_060570.2:p.Lys465Arg
NM_001172420.2:c.1337A>G NP_001165891.1:p.Lys446Arg
NR_033327.2:n.2720A>G