Canonical Allele Identifier: CA450427494

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479764-A-G
• MyVariant Identifiers: chr6:g.52344562A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479764A>G , CM000668.2:g.52479764A>G	GRCh38
NC_000006.11:g.52344562A>G , CM000668.1:g.52344562A>G	GRCh37
NC_000006.10:g.52452521A>G	NCBI36
NG_016760.1:g.64569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1617A>G MANE Select	ENSP00000360107.4:p.Glu539=
ENST00000480623.6:c.1617A>G	ENSP00000434498.2:p.Glu539=
ENST00000635760.1:c.1293A>G	ENSP00000489765.1:p.Glu431=
ENST00000635812.1:c.*918A>G	ENSP00000490859.1:n.*918A>G
ENST00000635866.1:c.*1486A>G	ENSP00000489866.1:n.*1486A>G
ENST00000635911.1:n.3135A>G
ENST00000635984.1:c.1293A>G	ENSP00000489921.1:p.Glu431=
ENST00000635996.1:c.1617A>G	ENSP00000490256.1:p.Glu539=
ENST00000636107.1:c.1617A>G	ENSP00000489680.1:p.Glu539=
ENST00000636311.1:n.1511A>G
ENST00000636343.1:c.1283A>G
ENST00000636379.1:c.1329A>G	ENSP00000490622.1:p.Glu443=
ENST00000636398.1:c.1317A>G	ENSP00000489654.1:n.1317A>G
ENST00000636489.1:c.1560A>G	ENSP00000489998.1:p.Glu520=
ENST00000636616.1:n.1178A>G
ENST00000636702.1:c.1587A>G	ENSP00000489623.1:p.Glu529=
ENST00000636954.1:c.1560A>G	ENSP00000489966.1:p.Glu520=
ENST00000637089.1:c.1617A>G	ENSP00000489854.1:p.Glu539=
ENST00000637121.1:n.1419A>G
ENST00000637263.1:c.1617A>G	ENSP00000489700.1:p.Glu539=
ENST00000637340.1:n.3542A>G
ENST00000637353.1:c.1617A>G	ENSP00000490441.1:p.Glu539=
ENST00000637602.1:c.*1318A>G	ENSP00000490074.1:n.*1318A>G
ENST00000637849.1:n.1681A>G
ENST00000637892.1:n.1821A>G
ENST00000371068.9:c.1617A>G	ENSP00000360107.4:p.Glu539=
ENST00000480623.5:c.*2037A>G	ENSP00000434498.1:n.*2037A>G
ENST00000538167.2:c.1560A>G	ENSP00000444521.1:p.Glu520=
NM_001172420.1:c.1560A>G	NP_001165891.1:p.Glu520=
NM_018100.3:c.1617A>G	NP_060570.2:p.Glu539=
NR_033327.1:n.3089A>G
NM_018100.4:c.1617A>G MANE Select	NP_060570.2:p.Glu539=
NM_001172420.2:c.1560A>G	NP_001165891.1:p.Glu520=
NR_033327.2:n.2943A>G