Canonical Allele Identifier: CA450427469

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479725-A-G
• MyVariant Identifiers: chr6:g.52344523A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479725A>G , CM000668.2:g.52479725A>G	GRCh38
NC_000006.11:g.52344523A>G , CM000668.1:g.52344523A>G	GRCh37
NC_000006.10:g.52452482A>G	NCBI36
NG_016760.1:g.64530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1578A>G MANE Select	ENSP00000360107.4:p.Glu526=
ENST00000480623.6:c.1578A>G	ENSP00000434498.2:p.Glu526=
ENST00000635760.1:c.1254A>G	ENSP00000489765.1:p.Glu418=
ENST00000635812.1:c.*879A>G	ENSP00000490859.1:n.*879A>G
ENST00000635866.1:c.*1447A>G	ENSP00000489866.1:n.*1447A>G
ENST00000635911.1:n.3096A>G
ENST00000635984.1:c.1254A>G	ENSP00000489921.1:p.Glu418=
ENST00000635996.1:c.1578A>G	ENSP00000490256.1:p.Glu526=
ENST00000636107.1:c.1578A>G	ENSP00000489680.1:p.Glu526=
ENST00000636311.1:n.1472A>G
ENST00000636343.1:c.1244A>G
ENST00000636379.1:c.1290A>G	ENSP00000490622.1:p.Glu430=
ENST00000636398.1:c.1278A>G	ENSP00000489654.1:n.1278A>G
ENST00000636489.1:c.1521A>G	ENSP00000489998.1:p.Glu507=
ENST00000636616.1:n.1139A>G
ENST00000636702.1:c.1548A>G	ENSP00000489623.1:p.Glu516=
ENST00000636954.1:c.1521A>G	ENSP00000489966.1:p.Glu507=
ENST00000637089.1:c.1578A>G	ENSP00000489854.1:p.Glu526=
ENST00000637121.1:n.1380A>G
ENST00000637263.1:c.1578A>G	ENSP00000489700.1:p.Glu526=
ENST00000637340.1:n.3503A>G
ENST00000637353.1:c.1578A>G	ENSP00000490441.1:p.Glu526=
ENST00000637602.1:c.*1279A>G	ENSP00000490074.1:n.*1279A>G
ENST00000637849.1:n.1642A>G
ENST00000637892.1:n.1782A>G
ENST00000371068.9:c.1578A>G	ENSP00000360107.4:p.Glu526=
ENST00000480623.5:c.*1998A>G	ENSP00000434498.1:n.*1998A>G
ENST00000538167.2:c.1521A>G	ENSP00000444521.1:p.Glu507=
NM_001172420.1:c.1521A>G	NP_001165891.1:p.Glu507=
NM_018100.3:c.1578A>G	NP_060570.2:p.Glu526=
NR_033327.1:n.3050A>G
NM_018100.4:c.1578A>G MANE Select	NP_060570.2:p.Glu526=
NM_001172420.2:c.1521A>G	NP_001165891.1:p.Glu507=
NR_033327.2:n.2904A>G