Canonical Allele Identifier: CA3855746

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52438476G>A , CM000668.2:g.52438476G>A	GRCh38
NC_000006.11:g.52303274G>A , CM000668.1:g.52303274G>A	GRCh37
NC_000006.10:g.52411233G>A	NCBI36
NG_016760.1:g.23281G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.458G>A MANE Select	NP_060570.2:p.Arg153Gln
ENST00000371068.11:c.458G>A MANE Select	ENSP00000360107.4:p.Arg153Gln
NM_001172420.1:c.401G>A	NP_001165891.1:p.Arg134Gln
NM_001172420.2:c.401G>A	NP_001165891.1:p.Arg134Gln
NM_018100.3:c.458G>A	NP_060570.2:p.Arg153Gln
NR_033327.1:n.673G>A
NR_033327.2:n.527G>A
ENST00000371068.9:c.458G>A	ENSP00000360107.4:p.Arg153Gln
ENST00000480623.5:c.458G>A	ENSP00000434498.1:p.Arg153Gln
ENST00000480623.6:c.458G>A	ENSP00000434498.2:p.Arg153Gln
ENST00000491749.1:n.817G>A
ENST00000538167.2:c.401G>A	ENSP00000444521.1:p.Arg134Gln
ENST00000635760.1:c.134G>A	ENSP00000489765.1:p.Arg45Gln
ENST00000635812.1:c.458G>A	ENSP00000490859.1:p.Arg153Gln
ENST00000635866.1:c.*327G>A	ENSP00000489866.1:n.*327G>A
ENST00000635911.1:n.719G>A
ENST00000635984.1:c.134G>A	ENSP00000489921.1:p.Arg45Gln
ENST00000635996.1:c.458G>A	ENSP00000490256.1:p.Arg153Gln
ENST00000636107.1:c.458G>A	ENSP00000489680.1:p.Arg153Gln
ENST00000636253.1:n.112G>A
ENST00000636311.1:n.467+22G>A
ENST00000636343.1:c.124G>A
ENST00000636379.1:c.286-14212G>A	ENSP00000490622.1:n.286-14212G>A
ENST00000636398.1:c.125G>A	ENSP00000489654.1:p.Arg42Gln
ENST00000636489.1:c.401G>A	ENSP00000489998.1:p.Arg134Gln
ENST00000636566.1:c.134G>A	ENSP00000490602.1:p.Arg45Gln
ENST00000636702.1:c.428G>A	ENSP00000489623.1:p.Arg143Gln
ENST00000636954.1:c.401G>A	ENSP00000489966.1:p.Arg134Gln
ENST00000637089.1:c.458G>A	ENSP00000489854.1:p.Arg153Gln
ENST00000637200.1:c.*474G>A	ENSP00000490567.1:n.*474G>A
ENST00000637263.1:c.458G>A	ENSP00000489700.1:p.Arg153Gln
ENST00000637315.1:c.440G>A	ENSP00000489708.1:p.Arg147Gln
ENST00000637340.1:n.1126G>A
ENST00000637353.1:c.458G>A	ENSP00000490441.1:p.Arg153Gln
ENST00000637602.1:c.*159G>A	ENSP00000490074.1:n.*159G>A
ENST00000637849.1:n.522G>A
ENST00000637892.1:n.662G>A
ENST00000638075.1:c.-161G>A	ENSP00000490711.1:n.-161G>A