Canonical Allele Identifier: CA450423434

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329712G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464914G>A , CM000668.2:g.52464914G>A	GRCh38
NC_000006.11:g.52329712G>A , CM000668.1:g.52329712G>A	GRCh37
NC_000006.10:g.52437671G>A	NCBI36
NG_016760.1:g.49719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.936G>A MANE Select	ENSP00000360107.4:p.Val312=
ENST00000480623.6:c.936G>A	ENSP00000434498.2:p.Val312=
ENST00000635760.1:c.612G>A	ENSP00000489765.1:p.Val204=
ENST00000635812.1:c.*237G>A	ENSP00000490859.1:n.*237G>A
ENST00000635866.1:c.*805G>A	ENSP00000489866.1:n.*805G>A
ENST00000635911.1:n.2454G>A
ENST00000635984.1:c.612G>A	ENSP00000489921.1:p.Val204=
ENST00000635996.1:c.936G>A	ENSP00000490256.1:p.Val312=
ENST00000636107.1:c.936G>A	ENSP00000489680.1:p.Val312=
ENST00000636311.1:n.830G>A
ENST00000636343.1:c.602G>A
ENST00000636379.1:c.648G>A	ENSP00000490622.1:p.Val216=
ENST00000636398.1:c.636G>A	ENSP00000489654.1:n.636G>A
ENST00000636489.1:c.879G>A	ENSP00000489998.1:p.Val293=
ENST00000636616.1:n.552G>A
ENST00000636702.1:c.906G>A	ENSP00000489623.1:p.Val302=
ENST00000636954.1:c.879G>A	ENSP00000489966.1:p.Val293=
ENST00000637089.1:c.936G>A	ENSP00000489854.1:p.Val312=
ENST00000637263.1:c.936G>A	ENSP00000489700.1:p.Val312=
ENST00000637340.1:n.2861G>A
ENST00000637353.1:c.936G>A	ENSP00000490441.1:p.Val312=
ENST00000637602.1:c.*637G>A	ENSP00000490074.1:n.*637G>A
ENST00000637849.1:n.1000G>A
ENST00000637874.1:c.83-4419G>A	ENSP00000490348.1:n.83-4419G>A
ENST00000637892.1:n.1140G>A
ENST00000371068.9:c.936G>A	ENSP00000360107.4:p.Val312=
ENST00000480623.5:c.*1356G>A	ENSP00000434498.1:n.*1356G>A
ENST00000538167.2:c.879G>A	ENSP00000444521.1:p.Val293=
NM_001172420.1:c.879G>A	NP_001165891.1:p.Val293=
NM_018100.3:c.936G>A	NP_060570.2:p.Val312=
NR_033327.1:n.2408G>A
NM_018100.4:c.936G>A MANE Select	NP_060570.2:p.Val312=
NM_001172420.2:c.879G>A	NP_001165891.1:p.Val293=
NR_033327.2:n.2262G>A