Canonical Allele Identifier: CA450423453

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52464944-A-G
• MyVariant Identifiers: chr6:g.52329742A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464944A>G , CM000668.2:g.52464944A>G	GRCh38
NC_000006.11:g.52329742A>G , CM000668.1:g.52329742A>G	GRCh37
NC_000006.10:g.52437701A>G	NCBI36
NG_016760.1:g.49749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.966A>G MANE Select	ENSP00000360107.4:p.Glu322=
ENST00000480623.6:c.966A>G	ENSP00000434498.2:p.Glu322=
ENST00000635760.1:c.642A>G	ENSP00000489765.1:p.Glu214=
ENST00000635812.1:c.*267A>G	ENSP00000490859.1:n.*267A>G
ENST00000635866.1:c.*835A>G	ENSP00000489866.1:n.*835A>G
ENST00000635911.1:n.2484A>G
ENST00000635984.1:c.642A>G	ENSP00000489921.1:p.Glu214=
ENST00000635996.1:c.966A>G	ENSP00000490256.1:p.Glu322=
ENST00000636107.1:c.966A>G	ENSP00000489680.1:p.Glu322=
ENST00000636311.1:n.860A>G
ENST00000636343.1:c.632A>G
ENST00000636379.1:c.678A>G	ENSP00000490622.1:p.Glu226=
ENST00000636398.1:c.666A>G	ENSP00000489654.1:n.666A>G
ENST00000636489.1:c.909A>G	ENSP00000489998.1:p.Glu303=
ENST00000636616.1:n.582A>G
ENST00000636702.1:c.936A>G	ENSP00000489623.1:p.Glu312=
ENST00000636954.1:c.909A>G	ENSP00000489966.1:p.Glu303=
ENST00000637089.1:c.966A>G	ENSP00000489854.1:p.Glu322=
ENST00000637263.1:c.966A>G	ENSP00000489700.1:p.Glu322=
ENST00000637340.1:n.2891A>G
ENST00000637353.1:c.966A>G	ENSP00000490441.1:p.Glu322=
ENST00000637602.1:c.*667A>G	ENSP00000490074.1:n.*667A>G
ENST00000637849.1:n.1030A>G
ENST00000637874.1:c.83-4389A>G	ENSP00000490348.1:n.83-4389A>G
ENST00000637892.1:n.1170A>G
ENST00000371068.9:c.966A>G	ENSP00000360107.4:p.Glu322=
ENST00000480623.5:c.*1386A>G	ENSP00000434498.1:n.*1386A>G
ENST00000538167.2:c.909A>G	ENSP00000444521.1:p.Glu303=
NM_001172420.1:c.909A>G	NP_001165891.1:p.Glu303=
NM_018100.3:c.966A>G	NP_060570.2:p.Glu322=
NR_033327.1:n.2438A>G
NM_018100.4:c.966A>G MANE Select	NP_060570.2:p.Glu322=
NM_001172420.2:c.909A>G	NP_001165891.1:p.Glu303=
NR_033327.2:n.2292A>G