Canonical Allele Identifier: CA364458047

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479691-A-G
• MyVariant Identifiers: chr6:g.52344489A>G (hg19) ; chr6:g.52479691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479691A>G , CM000668.2:g.52479691A>G	GRCh38
NC_000006.11:g.52344489A>G , CM000668.1:g.52344489A>G	GRCh37
NC_000006.10:g.52452448A>G	NCBI36
NG_016760.1:g.64496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1544A>G MANE Select	ENSP00000360107.4:p.Tyr515Cys
ENST00000480623.6:c.1544A>G	ENSP00000434498.2:p.Tyr515Cys
ENST00000635760.1:c.1220A>G	ENSP00000489765.1:p.Tyr407Cys
ENST00000635812.1:c.*845A>G	ENSP00000490859.1:n.*845A>G
ENST00000635866.1:c.*1413A>G	ENSP00000489866.1:n.*1413A>G
ENST00000635911.1:n.3062A>G
ENST00000635984.1:c.1220A>G	ENSP00000489921.1:p.Tyr407Cys
ENST00000635996.1:c.1544A>G	ENSP00000490256.1:p.Tyr515Cys
ENST00000636107.1:c.1544A>G	ENSP00000489680.1:p.Tyr515Cys
ENST00000636311.1:n.1438A>G
ENST00000636343.1:c.1210A>G
ENST00000636379.1:c.1256A>G	ENSP00000490622.1:p.Tyr419Cys
ENST00000636398.1:c.1244A>G	ENSP00000489654.1:n.1244A>G
ENST00000636489.1:c.1487A>G	ENSP00000489998.1:p.Tyr496Cys
ENST00000636616.1:n.1105A>G
ENST00000636702.1:c.1514A>G	ENSP00000489623.1:p.Tyr505Cys
ENST00000636954.1:c.1487A>G	ENSP00000489966.1:p.Tyr496Cys
ENST00000637089.1:c.1544A>G	ENSP00000489854.1:p.Tyr515Cys
ENST00000637121.1:n.1346A>G
ENST00000637263.1:c.1544A>G	ENSP00000489700.1:p.Tyr515Cys
ENST00000637340.1:n.3469A>G
ENST00000637353.1:c.1544A>G	ENSP00000490441.1:p.Tyr515Cys
ENST00000637602.1:c.*1245A>G	ENSP00000490074.1:n.*1245A>G
ENST00000637849.1:n.1608A>G
ENST00000637874.1:c.489A>G	ENSP00000490348.1:n.489A>G
ENST00000637892.1:n.1748A>G
ENST00000371068.9:c.1544A>G	ENSP00000360107.4:p.Tyr515Cys
ENST00000480623.5:c.*1964A>G	ENSP00000434498.1:n.*1964A>G
ENST00000538167.2:c.1487A>G	ENSP00000444521.1:p.Tyr496Cys
NM_001172420.1:c.1487A>G	NP_001165891.1:p.Tyr496Cys
NM_018100.3:c.1544A>G	NP_060570.2:p.Tyr515Cys
NR_033327.1:n.3016A>G
NM_018100.4:c.1544A>G MANE Select	NP_060570.2:p.Tyr515Cys
NM_001172420.2:c.1487A>G	NP_001165891.1:p.Tyr496Cys
NR_033327.2:n.2870A>G