Canonical Allele Identifier: CA364457880

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479667-A-G
• MyVariant Identifiers: chr6:g.52344465A>G (hg19) ; chr6:g.52479667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479667A>G , CM000668.2:g.52479667A>G	GRCh38
NC_000006.11:g.52344465A>G , CM000668.1:g.52344465A>G	GRCh37
NC_000006.10:g.52452424A>G	NCBI36
NG_016760.1:g.64472A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.1520A>G MANE Select	ENSP00000360107.4:p.Asp507Gly
ENST00000480623.6:c.1520A>G	ENSP00000434498.2:p.Asp507Gly
ENST00000635760.1:c.1196A>G	ENSP00000489765.1:p.Asp399Gly
ENST00000635812.1:c.*821A>G	ENSP00000490859.1:n.*821A>G
ENST00000635866.1:c.*1389A>G	ENSP00000489866.1:n.*1389A>G
ENST00000635911.1:n.3038A>G
ENST00000635984.1:c.1196A>G	ENSP00000489921.1:p.Asp399Gly
ENST00000635996.1:c.1520A>G	ENSP00000490256.1:p.Asp507Gly
ENST00000636107.1:c.1520A>G	ENSP00000489680.1:p.Asp507Gly
ENST00000636311.1:n.1414A>G
ENST00000636343.1:c.1186A>G
ENST00000636379.1:c.1232A>G	ENSP00000490622.1:p.Asp411Gly
ENST00000636398.1:c.1220A>G	ENSP00000489654.1:n.1220A>G
ENST00000636489.1:c.1463A>G	ENSP00000489998.1:p.Asp488Gly
ENST00000636616.1:n.1081A>G
ENST00000636702.1:c.1490A>G	ENSP00000489623.1:p.Asp497Gly
ENST00000636954.1:c.1463A>G	ENSP00000489966.1:p.Asp488Gly
ENST00000637089.1:c.1520A>G	ENSP00000489854.1:p.Asp507Gly
ENST00000637121.1:n.1322A>G
ENST00000637263.1:c.1520A>G	ENSP00000489700.1:p.Asp507Gly
ENST00000637340.1:n.3445A>G
ENST00000637353.1:c.1520A>G	ENSP00000490441.1:p.Asp507Gly
ENST00000637602.1:c.*1221A>G	ENSP00000490074.1:n.*1221A>G
ENST00000637849.1:n.1584A>G
ENST00000637874.1:c.465A>G	ENSP00000490348.1:n.465A>G
ENST00000637892.1:n.1724A>G
ENST00000371068.9:c.1520A>G	ENSP00000360107.4:p.Asp507Gly
ENST00000480623.5:c.*1940A>G	ENSP00000434498.1:n.*1940A>G
ENST00000538167.2:c.1463A>G	ENSP00000444521.1:p.Asp488Gly
NM_001172420.1:c.1463A>G	NP_001165891.1:p.Asp488Gly
NM_018100.3:c.1520A>G	NP_060570.2:p.Asp507Gly
NR_033327.1:n.2992A>G
NM_018100.4:c.1520A>G MANE Select	NP_060570.2:p.Asp507Gly
NM_001172420.2:c.1463A>G	NP_001165891.1:p.Asp488Gly
NR_033327.2:n.2846A>G