Canonical Allele Identifier: CA364452907

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52319059T>A (hg19) ; chr6:g.52454261T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454261T>A , CM000668.2:g.52454261T>A	GRCh38
NC_000006.11:g.52319059T>A , CM000668.1:g.52319059T>A	GRCh37
NC_000006.10:g.52427018T>A	NCBI36
NG_016760.1:g.39066T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.890T>A MANE Select	ENSP00000360107.4:p.Val297Glu
ENST00000480623.6:c.890T>A	ENSP00000434498.2:p.Val297Glu
ENST00000635760.1:c.566T>A	ENSP00000489765.1:p.Val189Glu
ENST00000635812.1:c.*191T>A	ENSP00000490859.1:n.*191T>A
ENST00000635866.1:c.*759T>A	ENSP00000489866.1:n.*759T>A
ENST00000635911.1:n.2408T>A
ENST00000635984.1:c.566T>A	ENSP00000489921.1:p.Val189Glu
ENST00000635996.1:c.890T>A	ENSP00000490256.1:p.Val297Glu
ENST00000636107.1:c.890T>A	ENSP00000489680.1:p.Val297Glu
ENST00000636311.1:n.784T>A
ENST00000636343.1:c.556T>A
ENST00000636379.1:c.602T>A	ENSP00000490622.1:p.Val201Glu
ENST00000636398.1:c.590T>A	ENSP00000489654.1:n.590T>A
ENST00000636489.1:c.833T>A	ENSP00000489998.1:p.Val278Glu
ENST00000636616.1:n.506T>A
ENST00000636702.1:c.860T>A	ENSP00000489623.1:p.Val287Glu
ENST00000636954.1:c.833T>A	ENSP00000489966.1:p.Val278Glu
ENST00000637089.1:c.890T>A	ENSP00000489854.1:p.Val297Glu
ENST00000637263.1:c.890T>A	ENSP00000489700.1:p.Val297Glu
ENST00000637340.1:n.2815T>A
ENST00000637353.1:c.890T>A	ENSP00000490441.1:p.Val297Glu
ENST00000637602.1:c.*591T>A	ENSP00000490074.1:n.*591T>A
ENST00000637849.1:n.954T>A
ENST00000637874.1:c.56T>A	ENSP00000490348.1:p.Val19Glu
ENST00000637892.1:n.1094T>A
ENST00000371068.9:c.890T>A	ENSP00000360107.4:p.Val297Glu
ENST00000480623.5:c.*1310T>A	ENSP00000434498.1:n.*1310T>A
ENST00000538167.2:c.833T>A	ENSP00000444521.1:p.Val278Glu
NM_001172420.1:c.833T>A	NP_001165891.1:p.Val278Glu
NM_018100.3:c.890T>A	NP_060570.2:p.Val297Glu
NR_033327.1:n.2362T>A
NM_018100.4:c.890T>A MANE Select	NP_060570.2:p.Val297Glu
NM_001172420.2:c.833T>A	NP_001165891.1:p.Val278Glu
NR_033327.2:n.2216T>A