Canonical Allele Identifier: CA138992197
Community Standard Title: NM_018100.4(EFHC1):c.333T>C (p.Thr111=)
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52438351T>C , CM000668.2:g.52438351T>C GRCh38
NC_000006.11:g.52303149T>C , CM000668.1:g.52303149T>C GRCh37
NC_000006.10:g.52411108T>C NCBI36
NG_016760.1:g.23156T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018100.4:c.333T>C MANE Select NP_060570.2:p.Thr111=
ENST00000371068.11:c.333T>C MANE Select ENSP00000360107.4:p.Thr111=
NM_001172420.1:c.276T>C NP_001165891.1:p.Thr92=
NM_001172420.2:c.276T>C NP_001165891.1:p.Thr92=
NM_018100.3:c.333T>C NP_060570.2:p.Thr111=
NR_033327.1:n.548T>C
NR_033327.2:n.402T>C
ENST00000371068.9:c.333T>C ENSP00000360107.4:p.Thr111=
ENST00000480623.5:c.333T>C ENSP00000434498.1:p.Thr111=
ENST00000480623.6:c.333T>C ENSP00000434498.2:p.Thr111=
ENST00000491749.1:n.692T>C
ENST00000538167.2:c.276T>C ENSP00000444521.1:p.Thr92=
ENST00000635760.1:c.9T>C ENSP00000489765.1:p.Thr3=
ENST00000635812.1:c.333T>C ENSP00000490859.1:p.Thr111=
ENST00000635866.1:c.*202T>C ENSP00000489866.1:n.*202T>C
ENST00000635911.1:n.594T>C
ENST00000635963.1:c.*111T>C ENSP00000489852.1:n.*111T>C
ENST00000635984.1:c.9T>C ENSP00000489921.1:p.Thr3=
ENST00000635996.1:c.333T>C ENSP00000490256.1:p.Thr111=
ENST00000636107.1:c.333T>C ENSP00000489680.1:p.Thr111=
ENST00000636311.1:n.364T>C
ENST00000636379.1:c.285+14184T>C ENSP00000490622.1:n.285+14184T>C
ENST00000636489.1:c.276T>C ENSP00000489998.1:p.Thr92=
ENST00000636566.1:c.9T>C ENSP00000490602.1:p.Thr3=
ENST00000636702.1:c.303T>C ENSP00000489623.1:p.Thr101=
ENST00000636954.1:c.276T>C ENSP00000489966.1:p.Thr92=
ENST00000637089.1:c.333T>C ENSP00000489854.1:p.Thr111=
ENST00000637200.1:c.*349T>C ENSP00000490567.1:n.*349T>C
ENST00000637263.1:c.333T>C ENSP00000489700.1:p.Thr111=
ENST00000637315.1:c.315T>C ENSP00000489708.1:p.Thr105=
ENST00000637340.1:n.1001T>C
ENST00000637353.1:c.333T>C ENSP00000490441.1:p.Thr111=
ENST00000637602.1:c.*34T>C ENSP00000490074.1:n.*34T>C
ENST00000637849.1:n.397T>C
ENST00000637892.1:n.537T>C
ENST00000638075.1:c.-207T>C ENSP00000490711.1:n.-207T>C