Canonical Allele Identifier: CA138982248
Gene: EFHC1 HGNC NCBI

Linked Data

dbSNP Id: rs953235641
gnomAD v2: 6-52329806-A-G
gnomAD v3: 6-52465008-A-G
gnomAD v4: 6-52465008-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52465008A>G , CM000668.2:g.52465008A>G GRCh38
NC_000006.11:g.52329806A>G , CM000668.1:g.52329806A>G GRCh37
NC_000006.10:g.52437765A>G NCBI36
NG_016760.1:g.49813A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1030A>G MANE Select ENSP00000360107.4:p.Ile344Val
ENST00000480623.6:c.1030A>G ENSP00000434498.2:p.Ile344Val
ENST00000635760.1:c.706A>G ENSP00000489765.1:p.Ile236Val
ENST00000635812.1:c.*331A>G ENSP00000490859.1:n.*331A>G
ENST00000635866.1:c.*899A>G ENSP00000489866.1:n.*899A>G
ENST00000635911.1:n.2548A>G
ENST00000635984.1:c.706A>G ENSP00000489921.1:p.Ile236Val
ENST00000635996.1:c.1030A>G ENSP00000490256.1:p.Ile344Val
ENST00000636107.1:c.1030A>G ENSP00000489680.1:p.Ile344Val
ENST00000636311.1:n.924A>G
ENST00000636343.1:c.696A>G
ENST00000636379.1:c.742A>G ENSP00000490622.1:p.Ile248Val
ENST00000636398.1:c.730A>G ENSP00000489654.1:n.730A>G
ENST00000636489.1:c.973A>G ENSP00000489998.1:p.Ile325Val
ENST00000636616.1:n.646A>G
ENST00000636702.1:c.1000A>G ENSP00000489623.1:p.Ile334Val
ENST00000636954.1:c.973A>G ENSP00000489966.1:p.Ile325Val
ENST00000637089.1:c.1030A>G ENSP00000489854.1:p.Ile344Val
ENST00000637263.1:c.1030A>G ENSP00000489700.1:p.Ile344Val
ENST00000637340.1:n.2955A>G
ENST00000637353.1:c.1030A>G ENSP00000490441.1:p.Ile344Val
ENST00000637602.1:c.*731A>G ENSP00000490074.1:n.*731A>G
ENST00000637849.1:n.1094A>G
ENST00000637874.1:c.83-4325A>G ENSP00000490348.1:n.83-4325A>G
ENST00000637892.1:n.1234A>G
ENST00000371068.9:c.1030A>G ENSP00000360107.4:p.Ile344Val
ENST00000480623.5:c.*1450A>G ENSP00000434498.1:n.*1450A>G
ENST00000538167.2:c.973A>G ENSP00000444521.1:p.Ile325Val
NM_001172420.1:c.973A>G NP_001165891.1:p.Ile325Val
NM_018100.3:c.1030A>G NP_060570.2:p.Ile344Val
NR_033327.1:n.2502A>G
NM_018100.4:c.1030A>G MANE Select NP_060570.2:p.Ile344Val
NM_001172420.2:c.973A>G NP_001165891.1:p.Ile325Val
NR_033327.2:n.2356A>G