Canonical Allele Identifier: CA3856123

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 572605
• ClinVar RCV Id: RCV003768063
• dbSNP Id: rs766675010
• ExAC: 6:52344507 C / G
• gnomAD v2: 6-52344507-C-G
• gnomAD v4: 6-52479709-C-G
• MyVariant Identifiers: chr6:g.52344507C>G (hg19) ; chr6:g.52479709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479709C>G , CM000668.2:g.52479709C>G	GRCh38
NC_000006.11:g.52344507C>G , CM000668.1:g.52344507C>G	GRCh37
NC_000006.10:g.52452466C>G	NCBI36
NG_016760.1:g.64514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1562C>G MANE Select	ENSP00000360107.4:p.Ala521Gly
ENST00000480623.6:c.1562C>G	ENSP00000434498.2:p.Ala521Gly
ENST00000635760.1:c.1238C>G	ENSP00000489765.1:p.Ala413Gly
ENST00000635812.1:c.*863C>G	ENSP00000490859.1:n.*863C>G
ENST00000635866.1:c.*1431C>G	ENSP00000489866.1:n.*1431C>G
ENST00000635911.1:n.3080C>G
ENST00000635984.1:c.1238C>G	ENSP00000489921.1:p.Ala413Gly
ENST00000635996.1:c.1562C>G	ENSP00000490256.1:p.Ala521Gly
ENST00000636107.1:c.1562C>G	ENSP00000489680.1:p.Ala521Gly
ENST00000636311.1:n.1456C>G
ENST00000636343.1:c.1228C>G
ENST00000636379.1:c.1274C>G	ENSP00000490622.1:p.Ala425Gly
ENST00000636398.1:c.1262C>G	ENSP00000489654.1:n.1262C>G
ENST00000636489.1:c.1505C>G	ENSP00000489998.1:p.Ala502Gly
ENST00000636616.1:n.1123C>G
ENST00000636702.1:c.1532C>G	ENSP00000489623.1:p.Ala511Gly
ENST00000636954.1:c.1505C>G	ENSP00000489966.1:p.Ala502Gly
ENST00000637089.1:c.1562C>G	ENSP00000489854.1:p.Ala521Gly
ENST00000637121.1:n.1364C>G
ENST00000637263.1:c.1562C>G	ENSP00000489700.1:p.Ala521Gly
ENST00000637340.1:n.3487C>G
ENST00000637353.1:c.1562C>G	ENSP00000490441.1:p.Ala521Gly
ENST00000637602.1:c.*1263C>G	ENSP00000490074.1:n.*1263C>G
ENST00000637849.1:n.1626C>G
ENST00000637892.1:n.1766C>G
ENST00000371068.9:c.1562C>G	ENSP00000360107.4:p.Ala521Gly
ENST00000480623.5:c.*1982C>G	ENSP00000434498.1:n.*1982C>G
ENST00000538167.2:c.1505C>G	ENSP00000444521.1:p.Ala502Gly
NM_001172420.1:c.1505C>G	NP_001165891.1:p.Ala502Gly
NM_018100.3:c.1562C>G	NP_060570.2:p.Ala521Gly
NR_033327.1:n.3034C>G
NM_018100.4:c.1562C>G MANE Select	NP_060570.2:p.Ala521Gly
NM_001172420.2:c.1505C>G	NP_001165891.1:p.Ala502Gly
NR_033327.2:n.2888C>G