Canonical Allele Identifier: CA3856125

Gene: EFHC1

Linked Data

• dbSNP Id: rs547277110
• ExAC: 6:52344527 C / G
• gnomAD v2: 6-52344527-C-G
• gnomAD v3: 6-52479729-C-G
• gnomAD v4: 6-52479729-C-G
• MyVariant Identifiers: chr6:g.52344527C>G (hg19) ; chr6:g.52479729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479729C>G , CM000668.2:g.52479729C>G	GRCh38
NC_000006.11:g.52344527C>G , CM000668.1:g.52344527C>G	GRCh37
NC_000006.10:g.52452486C>G	NCBI36
NG_016760.1:g.64534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1582C>G MANE Select	ENSP00000360107.4:p.Leu528Val
ENST00000480623.6:c.1582C>G	ENSP00000434498.2:p.Leu528Val
ENST00000635760.1:c.1258C>G	ENSP00000489765.1:p.Leu420Val
ENST00000635812.1:c.*883C>G	ENSP00000490859.1:n.*883C>G
ENST00000635866.1:c.*1451C>G	ENSP00000489866.1:n.*1451C>G
ENST00000635911.1:n.3100C>G
ENST00000635984.1:c.1258C>G	ENSP00000489921.1:p.Leu420Val
ENST00000635996.1:c.1582C>G	ENSP00000490256.1:p.Leu528Val
ENST00000636107.1:c.1582C>G	ENSP00000489680.1:p.Leu528Val
ENST00000636311.1:n.1476C>G
ENST00000636343.1:c.1248C>G
ENST00000636379.1:c.1294C>G	ENSP00000490622.1:p.Leu432Val
ENST00000636398.1:c.1282C>G	ENSP00000489654.1:n.1282C>G
ENST00000636489.1:c.1525C>G	ENSP00000489998.1:p.Leu509Val
ENST00000636616.1:n.1143C>G
ENST00000636702.1:c.1552C>G	ENSP00000489623.1:p.Leu518Val
ENST00000636954.1:c.1525C>G	ENSP00000489966.1:p.Leu509Val
ENST00000637089.1:c.1582C>G	ENSP00000489854.1:p.Leu528Val
ENST00000637121.1:n.1384C>G
ENST00000637263.1:c.1582C>G	ENSP00000489700.1:p.Leu528Val
ENST00000637340.1:n.3507C>G
ENST00000637353.1:c.1582C>G	ENSP00000490441.1:p.Leu528Val
ENST00000637602.1:c.*1283C>G	ENSP00000490074.1:n.*1283C>G
ENST00000637849.1:n.1646C>G
ENST00000637892.1:n.1786C>G
ENST00000371068.9:c.1582C>G	ENSP00000360107.4:p.Leu528Val
ENST00000480623.5:c.*2002C>G	ENSP00000434498.1:n.*2002C>G
ENST00000538167.2:c.1525C>G	ENSP00000444521.1:p.Leu509Val
NM_001172420.1:c.1525C>G	NP_001165891.1:p.Leu509Val
NM_018100.3:c.1582C>G	NP_060570.2:p.Leu528Val
NR_033327.1:n.3054C>G
NM_018100.4:c.1582C>G MANE Select	NP_060570.2:p.Leu528Val
NM_001172420.2:c.1525C>G	NP_001165891.1:p.Leu509Val
NR_033327.2:n.2908C>G