Canonical Allele Identifier: CA450422410

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317545T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452747T>C , CM000668.2:g.52452747T>C	GRCh38
NC_000006.11:g.52317545T>C , CM000668.1:g.52317545T>C	GRCh37
NC_000006.10:g.52425504T>C	NCBI36
NG_016760.1:g.37552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.633T>C MANE Select	ENSP00000360107.4:p.Pro211=
ENST00000480623.6:c.633T>C	ENSP00000434498.2:p.Pro211=
ENST00000635760.1:c.309T>C	ENSP00000489765.1:p.Pro103=
ENST00000635812.1:c.633T>C	ENSP00000490859.1:p.Pro211=
ENST00000635866.1:c.*502T>C	ENSP00000489866.1:n.*502T>C
ENST00000635911.1:n.894T>C
ENST00000635984.1:c.309T>C	ENSP00000489921.1:p.Pro103=
ENST00000635996.1:c.633T>C	ENSP00000490256.1:p.Pro211=
ENST00000636107.1:c.633T>C	ENSP00000489680.1:p.Pro211=
ENST00000636253.1:n.287T>C
ENST00000636311.1:n.527T>C
ENST00000636343.1:c.299T>C
ENST00000636379.1:c.345T>C	ENSP00000490622.1:p.Pro115=
ENST00000636398.1:c.300T>C	ENSP00000489654.1:p.Pro100=
ENST00000636489.1:c.576T>C	ENSP00000489998.1:p.Pro192=
ENST00000636702.1:c.603T>C	ENSP00000489623.1:p.Pro201=
ENST00000636954.1:c.576T>C	ENSP00000489966.1:p.Pro192=
ENST00000637089.1:c.633T>C	ENSP00000489854.1:p.Pro211=
ENST00000637200.1:c.*649T>C	ENSP00000490567.1:n.*649T>C
ENST00000637263.1:c.633T>C	ENSP00000489700.1:p.Pro211=
ENST00000637340.1:n.1301T>C
ENST00000637353.1:c.633T>C	ENSP00000490441.1:p.Pro211=
ENST00000637602.1:c.*334T>C	ENSP00000490074.1:n.*334T>C
ENST00000637849.1:n.697T>C
ENST00000637892.1:n.837T>C
ENST00000638075.1:c.15T>C	ENSP00000490711.1:p.Pro5=
ENST00000371068.9:c.633T>C	ENSP00000360107.4:p.Pro211=
ENST00000480623.5:c.633T>C	ENSP00000434498.1:p.Pro211=
ENST00000538167.2:c.576T>C	ENSP00000444521.1:p.Pro192=
NM_001172420.1:c.576T>C	NP_001165891.1:p.Pro192=
NM_018100.3:c.633T>C	NP_060570.2:p.Pro211=
NR_033327.1:n.848T>C
NM_018100.4:c.633T>C MANE Select	NP_060570.2:p.Pro211=
NM_001172420.2:c.576T>C	NP_001165891.1:p.Pro192=
NR_033327.2:n.702T>C