Canonical Allele Identifier: CA156437

Gene: DCAF8

Linked Data

• ClinVar Variation Id: 133348
• ClinVar RCV Id: RCV000119848
• dbSNP Id: rs587777425
• ExAC: 1:160206935 G / A
• gnomAD v2: 1-160206935-G-A
• gnomAD v3: 1-160237145-G-A
• gnomAD v4: 1-160237145-G-A
• MyVariant Identifiers: chr1:g.160206935G>A (hg19) ; chr1:g.160237145G>A (hg38)
• PubMed: PMID:3859241 ; PMID:24500646

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160237145G>A , CM000663.2:g.160237145G>A	GRCh38
NC_000001.10:g.160206935G>A , CM000663.1:g.160206935G>A	GRCh37
NC_000001.9:g.158473559G>A	NCBI36
NG_034154.1:g.30416C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368074.6:c.949C>T MANE Select	ENSP00000357053.1:p.Arg317Cys
ENST00000556710.6:c.*1533C>T	ENSP00000451235.2:n.*1533C>T
ENST00000647676.1:c.1287C>T	ENSP00000497162.1:n.1287C>T
ENST00000326837.6:c.949C>T	ENSP00000318227.2:p.Arg317Cys
ENST00000368073.7:c.949C>T	ENSP00000357052.3:p.Arg317Cys
ENST00000368074.5:c.949C>T	ENSP00000357053.1:p.Arg317Cys
ENST00000461888.5:c.949C>T	ENSP00000476407.1:p.Arg317Cys
ENST00000466253.1:n.464C>T
ENST00000556710.5:c.1411C>T	ENSP00000451235.1:p.Arg471Cys
NM_015726.3:c.949C>T	NP_056541.2:p.Arg317Cys
NR_028103.1:n.1461C>T
NR_028104.1:n.1387C>T
NM_015726.4:c.949C>T MANE Select	NP_056541.2:p.Arg317Cys
NR_028103.2:n.1482C>T
NR_028104.2:n.1408C>T