Canonical Allele Identifier: CA3856078

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 578529
• ClinVar RCV Id: RCV003768078
• dbSNP Id: rs373042342
• ExAC: 6:52343952 T / G
• gnomAD v2: 6-52343952-T-G
• gnomAD v3: 6-52479154-T-G
• gnomAD v4: 6-52479154-T-G
• MyVariant Identifiers: chr6:g.52343952T>G (hg19) ; chr6:g.52479154T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479154T>G , CM000668.2:g.52479154T>G	GRCh38
NC_000006.11:g.52343952T>G , CM000668.1:g.52343952T>G	GRCh37
NC_000006.10:g.52451911T>G	NCBI36
NG_016760.1:g.63959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1396T>G MANE Select	ENSP00000360107.4:p.Tyr466Asp
ENST00000480623.6:c.1396T>G	ENSP00000434498.2:p.Tyr466Asp
ENST00000635760.1:c.1072T>G	ENSP00000489765.1:p.Tyr358Asp
ENST00000635812.1:c.*697T>G	ENSP00000490859.1:n.*697T>G
ENST00000635866.1:c.*1265T>G	ENSP00000489866.1:n.*1265T>G
ENST00000635911.1:n.2914T>G
ENST00000635984.1:c.1072T>G	ENSP00000489921.1:p.Tyr358Asp
ENST00000635996.1:c.1396T>G	ENSP00000490256.1:p.Tyr466Asp
ENST00000636107.1:c.1396T>G	ENSP00000489680.1:p.Tyr466Asp
ENST00000636311.1:n.1290T>G
ENST00000636343.1:c.1062T>G
ENST00000636379.1:c.1108T>G	ENSP00000490622.1:p.Tyr370Asp
ENST00000636398.1:c.1096T>G	ENSP00000489654.1:n.1096T>G
ENST00000636489.1:c.1339T>G	ENSP00000489998.1:p.Tyr447Asp
ENST00000636616.1:n.957T>G
ENST00000636702.1:c.1366T>G	ENSP00000489623.1:p.Tyr456Asp
ENST00000636954.1:c.1339T>G	ENSP00000489966.1:p.Tyr447Asp
ENST00000637089.1:c.1396T>G	ENSP00000489854.1:p.Tyr466Asp
ENST00000637121.1:n.1198T>G
ENST00000637263.1:c.1396T>G	ENSP00000489700.1:p.Tyr466Asp
ENST00000637340.1:n.3321T>G
ENST00000637353.1:c.1396T>G	ENSP00000490441.1:p.Tyr466Asp
ENST00000637602.1:c.*1097T>G	ENSP00000490074.1:n.*1097T>G
ENST00000637849.1:n.1460T>G
ENST00000637874.1:c.341T>G	ENSP00000490348.1:n.341T>G
ENST00000637892.1:n.1600T>G
ENST00000371068.9:c.1396T>G	ENSP00000360107.4:p.Tyr466Asp
ENST00000480623.5:c.*1816T>G	ENSP00000434498.1:n.*1816T>G
ENST00000538167.2:c.1339T>G	ENSP00000444521.1:p.Tyr447Asp
NM_001172420.1:c.1339T>G	NP_001165891.1:p.Tyr447Asp
NM_018100.3:c.1396T>G	NP_060570.2:p.Tyr466Asp
NR_033327.1:n.2868T>G
NM_018100.4:c.1396T>G MANE Select	NP_060570.2:p.Tyr466Asp
NM_001172420.2:c.1339T>G	NP_001165891.1:p.Tyr447Asp
NR_033327.2:n.2722T>G