Canonical Allele Identifier: CA115323

Gene: EFHC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454128G>T , CM000668.2:g.52454128G>T	GRCh38
NC_000006.11:g.52318926G>T , CM000668.1:g.52318926G>T	GRCh37
NC_000006.10:g.52426885G>T	NCBI36
NG_016760.1:g.38933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.757G>T MANE Select	ENSP00000360107.4:p.Asp253Tyr
ENST00000480623.6:c.757G>T	ENSP00000434498.2:p.Asp253Tyr
ENST00000635760.1:c.433G>T	ENSP00000489765.1:p.Asp145Tyr
ENST00000635812.1:c.*58G>T	ENSP00000490859.1:n.*58G>T
ENST00000635866.1:c.*626G>T	ENSP00000489866.1:n.*626G>T
ENST00000635911.1:n.2275G>T
ENST00000635984.1:c.433G>T	ENSP00000489921.1:p.Asp145Tyr
ENST00000635996.1:c.757G>T	ENSP00000490256.1:p.Asp253Tyr
ENST00000636107.1:c.757G>T	ENSP00000489680.1:p.Asp253Tyr
ENST00000636311.1:n.651G>T
ENST00000636343.1:c.423G>T
ENST00000636379.1:c.469G>T	ENSP00000490622.1:p.Asp157Tyr
ENST00000636398.1:c.457G>T	ENSP00000489654.1:n.457G>T
ENST00000636489.1:c.700G>T	ENSP00000489998.1:p.Asp234Tyr
ENST00000636616.1:n.373G>T
ENST00000636702.1:c.727G>T	ENSP00000489623.1:p.Asp243Tyr
ENST00000636954.1:c.700G>T	ENSP00000489966.1:p.Asp234Tyr
ENST00000637089.1:c.757G>T	ENSP00000489854.1:p.Asp253Tyr
ENST00000637263.1:c.757G>T	ENSP00000489700.1:p.Asp253Tyr
ENST00000637340.1:n.2682G>T
ENST00000637353.1:c.757G>T	ENSP00000490441.1:p.Asp253Tyr
ENST00000637602.1:c.*458G>T	ENSP00000490074.1:n.*458G>T
ENST00000637849.1:n.821G>T
ENST00000637892.1:n.961G>T
ENST00000371068.9:c.757G>T	ENSP00000360107.4:p.Asp253Tyr
ENST00000480623.5:c.*1177G>T	ENSP00000434498.1:n.*1177G>T
ENST00000538167.2:c.700G>T	ENSP00000444521.1:p.Asp234Tyr
NM_001172420.1:c.700G>T	NP_001165891.1:p.Asp234Tyr
NM_018100.3:c.757G>T	NP_060570.2:p.Asp253Tyr
NR_033327.1:n.2229G>T
NM_018100.4:c.757G>T MANE Select	NP_060570.2:p.Asp253Tyr
NM_001172420.2:c.700G>T	NP_001165891.1:p.Asp234Tyr
NR_033327.2:n.2083G>T