Canonical Allele Identifier: CA3856141

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 862136
• ClinVar RCV Id: RCV003238300 ; RCV003768976 ; RCV004030688
• dbSNP Id: rs759767484
• ExAC: 6:52344584 A / G
• gnomAD v2: 6-52344584-A-G
• gnomAD v3: 6-52479786-A-G
• gnomAD v4: 6-52479786-A-G
• MyVariant Identifiers: chr6:g.52344584A>G (hg19) ; chr6:g.52479786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479786A>G , CM000668.2:g.52479786A>G	GRCh38
NC_000006.11:g.52344584A>G , CM000668.1:g.52344584A>G	GRCh37
NC_000006.10:g.52452543A>G	NCBI36
NG_016760.1:g.64591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1639A>G MANE Select	ENSP00000360107.4:p.Ser547Gly
ENST00000480623.6:c.1639A>G	ENSP00000434498.2:p.Arg547Gly
ENST00000635760.1:c.1315A>G	ENSP00000489765.1:p.Ser439Gly
ENST00000635812.1:c.*940A>G	ENSP00000490859.1:n.*940A>G
ENST00000635866.1:c.*1508A>G	ENSP00000489866.1:n.*1508A>G
ENST00000635911.1:n.3157A>G
ENST00000635984.1:c.1315A>G	ENSP00000489921.1:p.Arg439Gly
ENST00000635996.1:c.1639A>G	ENSP00000490256.1:p.Ser547Gly
ENST00000636107.1:c.1639A>G	ENSP00000489680.1:p.Arg547Gly
ENST00000636311.1:n.1533A>G
ENST00000636343.1:c.1305A>G
ENST00000636379.1:c.1351A>G	ENSP00000490622.1:p.Ser451Gly
ENST00000636398.1:c.1339A>G	ENSP00000489654.1:n.1339A>G
ENST00000636489.1:c.1582A>G	ENSP00000489998.1:p.Ser528Gly
ENST00000636616.1:n.1200A>G
ENST00000636702.1:c.1609A>G	ENSP00000489623.1:p.Ser537Gly
ENST00000636954.1:c.1582A>G	ENSP00000489966.1:p.Ser528Gly
ENST00000637089.1:c.1639A>G	ENSP00000489854.1:p.Ser547Gly
ENST00000637121.1:n.1441A>G
ENST00000637263.1:c.1639A>G	ENSP00000489700.1:p.Arg547Gly
ENST00000637340.1:n.3564A>G
ENST00000637353.1:c.1639A>G	ENSP00000490441.1:p.Ser547Gly
ENST00000637602.1:c.*1340A>G	ENSP00000490074.1:n.*1340A>G
ENST00000637849.1:n.1703A>G
ENST00000637892.1:n.1843A>G
ENST00000371068.9:c.1639A>G	ENSP00000360107.4:p.Ser547Gly
ENST00000480623.5:c.*2059A>G	ENSP00000434498.1:n.*2059A>G
ENST00000538167.2:c.1582A>G	ENSP00000444521.1:p.Ser528Gly
NM_001172420.1:c.1582A>G	NP_001165891.1:p.Ser528Gly
NM_018100.3:c.1639A>G	NP_060570.2:p.Ser547Gly
NR_033327.1:n.3111A>G
NM_018100.4:c.1639A>G MANE Select	NP_060570.2:p.Ser547Gly
NM_001172420.2:c.1582A>G	NP_001165891.1:p.Ser528Gly
NR_033327.2:n.2965A>G