Canonical Allele Identifier: CA3856116

Gene: EFHC1

Linked Data

• dbSNP Id: rs771922968
• ExAC: 6:52344477 A / G
• gnomAD v2: 6-52344477-A-G
• gnomAD v4: 6-52479679-A-G
• MyVariant Identifiers: chr6:g.52344477A>G (hg19) ; chr6:g.52479679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479679A>G , CM000668.2:g.52479679A>G	GRCh38
NC_000006.11:g.52344477A>G , CM000668.1:g.52344477A>G	GRCh37
NC_000006.10:g.52452436A>G	NCBI36
NG_016760.1:g.64484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1532A>G MANE Select	ENSP00000360107.4:p.Tyr511Cys
ENST00000480623.6:c.1532A>G	ENSP00000434498.2:p.Tyr511Cys
ENST00000635760.1:c.1208A>G	ENSP00000489765.1:p.Tyr403Cys
ENST00000635812.1:c.*833A>G	ENSP00000490859.1:n.*833A>G
ENST00000635866.1:c.*1401A>G	ENSP00000489866.1:n.*1401A>G
ENST00000635911.1:n.3050A>G
ENST00000635984.1:c.1208A>G	ENSP00000489921.1:p.Tyr403Cys
ENST00000635996.1:c.1532A>G	ENSP00000490256.1:p.Tyr511Cys
ENST00000636107.1:c.1532A>G	ENSP00000489680.1:p.Tyr511Cys
ENST00000636311.1:n.1426A>G
ENST00000636343.1:c.1198A>G
ENST00000636379.1:c.1244A>G	ENSP00000490622.1:p.Tyr415Cys
ENST00000636398.1:c.1232A>G	ENSP00000489654.1:n.1232A>G
ENST00000636489.1:c.1475A>G	ENSP00000489998.1:p.Tyr492Cys
ENST00000636616.1:n.1093A>G
ENST00000636702.1:c.1502A>G	ENSP00000489623.1:p.Tyr501Cys
ENST00000636954.1:c.1475A>G	ENSP00000489966.1:p.Tyr492Cys
ENST00000637089.1:c.1532A>G	ENSP00000489854.1:p.Tyr511Cys
ENST00000637121.1:n.1334A>G
ENST00000637263.1:c.1532A>G	ENSP00000489700.1:p.Tyr511Cys
ENST00000637340.1:n.3457A>G
ENST00000637353.1:c.1532A>G	ENSP00000490441.1:p.Tyr511Cys
ENST00000637602.1:c.*1233A>G	ENSP00000490074.1:n.*1233A>G
ENST00000637849.1:n.1596A>G
ENST00000637874.1:c.477A>G	ENSP00000490348.1:n.477A>G
ENST00000637892.1:n.1736A>G
ENST00000371068.9:c.1532A>G	ENSP00000360107.4:p.Tyr511Cys
ENST00000480623.5:c.*1952A>G	ENSP00000434498.1:n.*1952A>G
ENST00000538167.2:c.1475A>G	ENSP00000444521.1:p.Tyr492Cys
NM_001172420.1:c.1475A>G	NP_001165891.1:p.Tyr492Cys
NM_018100.3:c.1532A>G	NP_060570.2:p.Tyr511Cys
NR_033327.1:n.3004A>G
NM_018100.4:c.1532A>G MANE Select	NP_060570.2:p.Tyr511Cys
NM_001172420.2:c.1475A>G	NP_001165891.1:p.Tyr492Cys
NR_033327.2:n.2858A>G