Canonical Allele Identifier: CA395691917

Gene: ZNF646

Linked Data

• ClinVar Variation Id: 2381721
• ClinVar RCV Id: RCV004221333
• dbSNP Id: rs1169784907
• gnomAD v3: 16-31078678-G-A
• gnomAD v4: 16-31078678-G-A
• MyVariant Identifiers: chr16:g.31089999G>A (hg19) ; chr16:g.31078678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31078678G>A , CM000678.2:g.31078678G>A	GRCh38
NC_000016.9:g.31089999G>A , CM000678.1:g.31089999G>A	GRCh37
NC_000016.8:g.30997500G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300850.5:c.2354G>A MANE Select	ENSP00000300850.5:p.Cys785Tyr
ENST00000394979.2:c.2354G>A	ENSP00000378429.2:p.Cys785Tyr
NM_014699.3:c.2354G>A	NP_055514.3:p.Cys785Tyr
XM_005255710.2:c.2354G>A	XP_005255767.1:p.Cys785Tyr
XM_005255711.2:c.2354G>A	XP_005255768.1:p.Cys785Tyr
XM_005255712.2:c.2354G>A	XP_005255769.1:p.Cys785Tyr
XM_011545990.1:c.2354G>A	XP_011544292.1:p.Cys785Tyr
XM_005255710.4:c.2354G>A	XP_005255767.1:p.Cys785Tyr
XM_005255711.4:c.2354G>A	XP_005255768.1:p.Cys785Tyr
XM_005255712.4:c.2354G>A	XP_005255769.1:p.Cys785Tyr
XM_011545990.2:c.2354G>A	XP_011544292.1:p.Cys785Tyr
XR_001752041.1:n.2379G>A
NM_014699.4:c.2354G>A MANE Select	NP_055514.3:p.Cys785Tyr