Canonical Allele Identifier: CA3855663
Community Standard Title: NM_018100.4(EFHC1):c.69A>T (p.Thr23=)
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52423951A>T , CM000668.2:g.52423951A>T GRCh38
NC_000006.11:g.52288749A>T , CM000668.1:g.52288749A>T GRCh37
NC_000006.10:g.52396708A>T NCBI36
NG_016760.1:g.8756A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018100.4:c.69A>T MANE Select NP_060570.2:p.Thr23=
ENST00000371068.11:c.69A>T MANE Select ENSP00000360107.4:p.Thr23=
NM_001172420.1:c.12A>T NP_001165891.1:p.Thr4=
NM_001172420.2:c.12A>T NP_001165891.1:p.Thr4=
NM_018100.3:c.69A>T NP_060570.2:p.Thr23=
NR_033327.1:n.284A>T
NR_033327.2:n.138A>T
ENST00000371068.9:c.69A>T ENSP00000360107.4:p.Thr23=
ENST00000480623.5:c.69A>T ENSP00000434498.1:p.Thr23=
ENST00000480623.6:c.69A>T ENSP00000434498.2:p.Thr23=
ENST00000491749.1:n.118A>T
ENST00000491749.2:n.93A>T
ENST00000538167.2:c.12A>T ENSP00000444521.1:p.Thr4=
ENST00000635760.1:c.-256A>T ENSP00000489765.1:n.-256A>T
ENST00000635812.1:c.69A>T ENSP00000490859.1:p.Thr23=
ENST00000635843.1:n.107A>T
ENST00000635866.1:c.69A>T ENSP00000489866.1:p.Thr23=
ENST00000635911.1:n.330A>T
ENST00000635963.1:c.69A>T ENSP00000489852.1:p.Thr23=
ENST00000635984.1:c.-256A>T ENSP00000489921.1:n.-256A>T
ENST00000635996.1:c.69A>T ENSP00000490256.1:p.Thr23=
ENST00000636107.1:c.69A>T ENSP00000489680.1:p.Thr23=
ENST00000636311.1:n.102-2A>T
ENST00000636379.1:c.69A>T ENSP00000490622.1:p.Thr23=
ENST00000636489.1:c.12A>T ENSP00000489998.1:p.Thr4=
ENST00000636566.1:c.-256A>T ENSP00000490602.1:n.-256A>T
ENST00000636702.1:c.39A>T ENSP00000489623.1:p.Thr13=
ENST00000636954.1:c.12A>T ENSP00000489966.1:p.Thr4=
ENST00000637089.1:c.69A>T ENSP00000489854.1:p.Thr23=
ENST00000637200.1:c.69A>T ENSP00000490567.1:p.Thr23=
ENST00000637263.1:c.69A>T ENSP00000489700.1:p.Thr23=
ENST00000637315.1:c.51A>T ENSP00000489708.1:p.Thr17=
ENST00000637340.1:n.737A>T
ENST00000637353.1:c.69A>T ENSP00000490441.1:p.Thr23=
ENST00000637602.1:c.69A>T ENSP00000490074.1:p.Thr23=
ENST00000637849.1:n.133A>T
ENST00000637892.1:n.273A>T
ENST00000638075.1:c.-469-2A>T ENSP00000490711.1:n.-469-2A>T
ENST00000638140.1:n.183A>T