Canonical Allele Identifier: CA31502613

Gene: DCAF8

Linked Data

• dbSNP Id: rs954409145
• gnomAD v2: 1-160206934-C-T
• gnomAD v3: 1-160237144-C-T
• gnomAD v4: 1-160237144-C-T
• COSMIC: COSM2085416 ; COSM2085417
• MyVariant Identifiers: chr1:g.160206934C>T (hg19) ; chr1:g.160237144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160237144C>T , CM000663.2:g.160237144C>T	GRCh38
NC_000001.10:g.160206934C>T , CM000663.1:g.160206934C>T	GRCh37
NC_000001.9:g.158473558C>T	NCBI36
NG_034154.1:g.30417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368074.6:c.950G>A MANE Select	ENSP00000357053.1:p.Arg317His
ENST00000556710.6:c.*1534G>A	ENSP00000451235.2:n.*1534G>A
ENST00000647676.1:c.1288G>A	ENSP00000497162.1:n.1288G>A
ENST00000326837.6:c.950G>A	ENSP00000318227.2:p.Arg317His
ENST00000368073.7:c.950G>A	ENSP00000357052.3:p.Arg317His
ENST00000368074.5:c.950G>A	ENSP00000357053.1:p.Arg317His
ENST00000461888.5:c.950G>A	ENSP00000476407.1:p.Arg317His
ENST00000466253.1:n.465G>A
ENST00000556710.5:c.1412G>A	ENSP00000451235.1:p.Arg471His
NM_015726.3:c.950G>A	NP_056541.2:p.Arg317His
NR_028103.1:n.1462G>A
NR_028104.1:n.1388G>A
NM_015726.4:c.950G>A MANE Select	NP_056541.2:p.Arg317His
NR_028103.2:n.1483G>A
NR_028104.2:n.1409G>A