Canonical Allele Identifier: CA7881428

Gene: ZNF500

Linked Data

• ClinVar Variation Id: 2402378
• ClinVar RCV Id: RCV004240985
• dbSNP Id: rs139150092
• ExAC: 16:4812306 G / A
• gnomAD v2: 16-4812306-G-A
• gnomAD v3: 16-4762305-G-A
• gnomAD v4: 16-4762305-G-A
• MyVariant Identifiers: chr16:g.4812306G>A (hg19) ; chr16:g.4762305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762305G>A , CM000678.2:g.4762305G>A	GRCh38
NC_000016.9:g.4812306G>A , CM000678.1:g.4812306G>A	GRCh37
NC_000016.8:g.4752307G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.629C>T MANE Select	ENSP00000219478.5:p.Ala210Val
ENST00000219478.10:c.629C>T	ENSP00000219478.5:p.Ala210Val
ENST00000545009.1:c.629C>T	ENSP00000445714.1:p.Ala210Val
ENST00000589422.1:c.*157C>T	ENSP00000466375.1:n.*157C>T
NM_001303450.1:c.629C>T	NP_001290379.1:p.Ala210Val
NM_021646.2:c.629C>T	NP_067678.1:p.Ala210Val
XM_005255243.2:c.278C>T	XP_005255300.1:p.Ala93Val
XM_011522453.1:c.629C>T	XP_011520755.1:p.Ala210Val
XM_011522454.1:c.5C>T	XP_011520756.1:p.Ala2Val
NM_021646.3:c.629C>T	NP_067678.1:p.Ala210Val
XM_005255243.4:c.278C>T	XP_005255300.1:p.Ala93Val
XM_011522453.2:c.629C>T	XP_011520755.1:p.Ala210Val
XM_011522454.3:c.5C>T	XP_011520756.1:p.Ala2Val
XM_017023121.2:c.5C>T	XP_016878610.1:p.Ala2Val
NM_001303450.2:c.629C>T	NP_001290379.1:p.Ala210Val
NM_021646.4:c.629C>T MANE Select	NP_067678.1:p.Ala210Val