Canonical Allele Identifier: CA3856137

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 718186
• ClinVar RCV Id: RCV002235491
• dbSNP Id: rs773438652
• ExAC: 6:52344565 G / A
• gnomAD v2: 6-52344565-G-A
• gnomAD v3: 6-52479767-G-A
• gnomAD v4: 6-52479767-G-A
• MyVariant Identifiers: chr6:g.52344565G>A (hg19) ; chr6:g.52479767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479767G>A , CM000668.2:g.52479767G>A	GRCh38
NC_000006.11:g.52344565G>A , CM000668.1:g.52344565G>A	GRCh37
NC_000006.10:g.52452524G>A	NCBI36
NG_016760.1:g.64572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1620G>A MANE Select	ENSP00000360107.4:p.Ala540=
ENST00000480623.6:c.1620G>A	ENSP00000434498.2:p.Ala540=
ENST00000635760.1:c.1296G>A	ENSP00000489765.1:p.Ala432=
ENST00000635812.1:c.*921G>A	ENSP00000490859.1:n.*921G>A
ENST00000635866.1:c.*1489G>A	ENSP00000489866.1:n.*1489G>A
ENST00000635911.1:n.3138G>A
ENST00000635984.1:c.1296G>A	ENSP00000489921.1:p.Ala432=
ENST00000635996.1:c.1620G>A	ENSP00000490256.1:p.Ala540=
ENST00000636107.1:c.1620G>A	ENSP00000489680.1:p.Ala540=
ENST00000636311.1:n.1514G>A
ENST00000636343.1:c.1286G>A
ENST00000636379.1:c.1332G>A	ENSP00000490622.1:p.Ala444=
ENST00000636398.1:c.1320G>A	ENSP00000489654.1:n.1320G>A
ENST00000636489.1:c.1563G>A	ENSP00000489998.1:p.Ala521=
ENST00000636616.1:n.1181G>A
ENST00000636702.1:c.1590G>A	ENSP00000489623.1:p.Ala530=
ENST00000636954.1:c.1563G>A	ENSP00000489966.1:p.Ala521=
ENST00000637089.1:c.1620G>A	ENSP00000489854.1:p.Ala540=
ENST00000637121.1:n.1422G>A
ENST00000637263.1:c.1620G>A	ENSP00000489700.1:p.Ala540=
ENST00000637340.1:n.3545G>A
ENST00000637353.1:c.1620G>A	ENSP00000490441.1:p.Ala540=
ENST00000637602.1:c.*1321G>A	ENSP00000490074.1:n.*1321G>A
ENST00000637849.1:n.1684G>A
ENST00000637892.1:n.1824G>A
ENST00000371068.9:c.1620G>A	ENSP00000360107.4:p.Ala540=
ENST00000480623.5:c.*2040G>A	ENSP00000434498.1:n.*2040G>A
ENST00000538167.2:c.1563G>A	ENSP00000444521.1:p.Ala521=
NM_001172420.1:c.1563G>A	NP_001165891.1:p.Ala521=
NM_018100.3:c.1620G>A	NP_060570.2:p.Ala540=
NR_033327.1:n.3092G>A
NM_018100.4:c.1620G>A MANE Select	NP_060570.2:p.Ala540=
NM_001172420.2:c.1563G>A	NP_001165891.1:p.Ala521=
NR_033327.2:n.2946G>A