Canonical Allele Identifier: CA364457353

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343953A>G (hg19) ; chr6:g.52479155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479155A>G , CM000668.2:g.52479155A>G	GRCh38
NC_000006.11:g.52343953A>G , CM000668.1:g.52343953A>G	GRCh37
NC_000006.10:g.52451912A>G	NCBI36
NG_016760.1:g.63960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1397A>G MANE Select	ENSP00000360107.4:p.Tyr466Cys
ENST00000480623.6:c.1397A>G	ENSP00000434498.2:p.Tyr466Cys
ENST00000635760.1:c.1073A>G	ENSP00000489765.1:p.Tyr358Cys
ENST00000635812.1:c.*698A>G	ENSP00000490859.1:n.*698A>G
ENST00000635866.1:c.*1266A>G	ENSP00000489866.1:n.*1266A>G
ENST00000635911.1:n.2915A>G
ENST00000635984.1:c.1073A>G	ENSP00000489921.1:p.Tyr358Cys
ENST00000635996.1:c.1397A>G	ENSP00000490256.1:p.Tyr466Cys
ENST00000636107.1:c.1397A>G	ENSP00000489680.1:p.Tyr466Cys
ENST00000636311.1:n.1291A>G
ENST00000636343.1:c.1063A>G
ENST00000636379.1:c.1109A>G	ENSP00000490622.1:p.Tyr370Cys
ENST00000636398.1:c.1097A>G	ENSP00000489654.1:n.1097A>G
ENST00000636489.1:c.1340A>G	ENSP00000489998.1:p.Tyr447Cys
ENST00000636616.1:n.958A>G
ENST00000636702.1:c.1367A>G	ENSP00000489623.1:p.Tyr456Cys
ENST00000636954.1:c.1340A>G	ENSP00000489966.1:p.Tyr447Cys
ENST00000637089.1:c.1397A>G	ENSP00000489854.1:p.Tyr466Cys
ENST00000637121.1:n.1199A>G
ENST00000637263.1:c.1397A>G	ENSP00000489700.1:p.Tyr466Cys
ENST00000637340.1:n.3322A>G
ENST00000637353.1:c.1397A>G	ENSP00000490441.1:p.Tyr466Cys
ENST00000637602.1:c.*1098A>G	ENSP00000490074.1:n.*1098A>G
ENST00000637849.1:n.1461A>G
ENST00000637874.1:c.342A>G	ENSP00000490348.1:n.342A>G
ENST00000637892.1:n.1601A>G
ENST00000371068.9:c.1397A>G	ENSP00000360107.4:p.Tyr466Cys
ENST00000480623.5:c.*1817A>G	ENSP00000434498.1:n.*1817A>G
ENST00000538167.2:c.1340A>G	ENSP00000444521.1:p.Tyr447Cys
NM_001172420.1:c.1340A>G	NP_001165891.1:p.Tyr447Cys
NM_018100.3:c.1397A>G	NP_060570.2:p.Tyr466Cys
NR_033327.1:n.2869A>G
NM_018100.4:c.1397A>G MANE Select	NP_060570.2:p.Tyr466Cys
NM_001172420.2:c.1340A>G	NP_001165891.1:p.Tyr447Cys
NR_033327.2:n.2723A>G