Canonical Allele Identifier: CA450422863

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52319057T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454259T>A , CM000668.2:g.52454259T>A	GRCh38
NC_000006.11:g.52319057T>A , CM000668.1:g.52319057T>A	GRCh37
NC_000006.10:g.52427016T>A	NCBI36
NG_016760.1:g.39064T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.888T>A MANE Select	ENSP00000360107.4:p.Arg296=
ENST00000480623.6:c.888T>A	ENSP00000434498.2:p.Arg296=
ENST00000635760.1:c.564T>A	ENSP00000489765.1:p.Arg188=
ENST00000635812.1:c.*189T>A	ENSP00000490859.1:n.*189T>A
ENST00000635866.1:c.*757T>A	ENSP00000489866.1:n.*757T>A
ENST00000635911.1:n.2406T>A
ENST00000635984.1:c.564T>A	ENSP00000489921.1:p.Arg188=
ENST00000635996.1:c.888T>A	ENSP00000490256.1:p.Arg296=
ENST00000636107.1:c.888T>A	ENSP00000489680.1:p.Arg296=
ENST00000636311.1:n.782T>A
ENST00000636343.1:c.554T>A
ENST00000636379.1:c.600T>A	ENSP00000490622.1:p.Arg200=
ENST00000636398.1:c.588T>A	ENSP00000489654.1:n.588T>A
ENST00000636489.1:c.831T>A	ENSP00000489998.1:p.Arg277=
ENST00000636616.1:n.504T>A
ENST00000636702.1:c.858T>A	ENSP00000489623.1:p.Arg286=
ENST00000636954.1:c.831T>A	ENSP00000489966.1:p.Arg277=
ENST00000637089.1:c.888T>A	ENSP00000489854.1:p.Arg296=
ENST00000637263.1:c.888T>A	ENSP00000489700.1:p.Arg296=
ENST00000637340.1:n.2813T>A
ENST00000637353.1:c.888T>A	ENSP00000490441.1:p.Arg296=
ENST00000637602.1:c.*589T>A	ENSP00000490074.1:n.*589T>A
ENST00000637849.1:n.952T>A
ENST00000637874.1:c.54T>A	ENSP00000490348.1:p.Arg18=
ENST00000637892.1:n.1092T>A
ENST00000371068.9:c.888T>A	ENSP00000360107.4:p.Arg296=
ENST00000480623.5:c.*1308T>A	ENSP00000434498.1:n.*1308T>A
ENST00000538167.2:c.831T>A	ENSP00000444521.1:p.Arg277=
NM_001172420.1:c.831T>A	NP_001165891.1:p.Arg277=
NM_018100.3:c.888T>A	NP_060570.2:p.Arg296=
NR_033327.1:n.2360T>A
NM_018100.4:c.888T>A MANE Select	NP_060570.2:p.Arg296=
NM_001172420.2:c.831T>A	NP_001165891.1:p.Arg277=
NR_033327.2:n.2214T>A