Canonical Allele Identifier: CA450423456

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329751T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464953T>C , CM000668.2:g.52464953T>C	GRCh38
NC_000006.11:g.52329751T>C , CM000668.1:g.52329751T>C	GRCh37
NC_000006.10:g.52437710T>C	NCBI36
NG_016760.1:g.49758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.975T>C MANE Select	ENSP00000360107.4:p.Thr325=
ENST00000480623.6:c.975T>C	ENSP00000434498.2:p.Thr325=
ENST00000635760.1:c.651T>C	ENSP00000489765.1:p.Thr217=
ENST00000635812.1:c.*276T>C	ENSP00000490859.1:n.*276T>C
ENST00000635866.1:c.*844T>C	ENSP00000489866.1:n.*844T>C
ENST00000635911.1:n.2493T>C
ENST00000635984.1:c.651T>C	ENSP00000489921.1:p.Thr217=
ENST00000635996.1:c.975T>C	ENSP00000490256.1:p.Thr325=
ENST00000636107.1:c.975T>C	ENSP00000489680.1:p.Thr325=
ENST00000636311.1:n.869T>C
ENST00000636343.1:c.641T>C
ENST00000636379.1:c.687T>C	ENSP00000490622.1:p.Thr229=
ENST00000636398.1:c.675T>C	ENSP00000489654.1:n.675T>C
ENST00000636489.1:c.918T>C	ENSP00000489998.1:p.Thr306=
ENST00000636616.1:n.591T>C
ENST00000636702.1:c.945T>C	ENSP00000489623.1:p.Thr315=
ENST00000636954.1:c.918T>C	ENSP00000489966.1:p.Thr306=
ENST00000637089.1:c.975T>C	ENSP00000489854.1:p.Thr325=
ENST00000637263.1:c.975T>C	ENSP00000489700.1:p.Thr325=
ENST00000637340.1:n.2900T>C
ENST00000637353.1:c.975T>C	ENSP00000490441.1:p.Thr325=
ENST00000637602.1:c.*676T>C	ENSP00000490074.1:n.*676T>C
ENST00000637849.1:n.1039T>C
ENST00000637874.1:c.83-4380T>C	ENSP00000490348.1:n.83-4380T>C
ENST00000637892.1:n.1179T>C
ENST00000371068.9:c.975T>C	ENSP00000360107.4:p.Thr325=
ENST00000480623.5:c.*1395T>C	ENSP00000434498.1:n.*1395T>C
ENST00000538167.2:c.918T>C	ENSP00000444521.1:p.Thr306=
NM_001172420.1:c.918T>C	NP_001165891.1:p.Thr306=
NM_018100.3:c.975T>C	NP_060570.2:p.Thr325=
NR_033327.1:n.2447T>C
NM_018100.4:c.975T>C MANE Select	NP_060570.2:p.Thr325=
NM_001172420.2:c.918T>C	NP_001165891.1:p.Thr306=
NR_033327.2:n.2301T>C