Canonical Allele Identifier: CA7881420

Gene: ZNF500

Linked Data

• ClinVar Variation Id: 2595199
• ClinVar RCV Id: RCV004340293
• dbSNP Id: rs758620269
• ExAC: 16:4812282 G / C
• gnomAD v2: 16-4812282-G-C
• gnomAD v4: 16-4762281-G-C
• MyVariant Identifiers: chr16:g.4812282G>C (hg19) ; chr16:g.4762281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762281G>C , CM000678.2:g.4762281G>C	GRCh38
NC_000016.9:g.4812282G>C , CM000678.1:g.4812282G>C	GRCh37
NC_000016.8:g.4752283G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.653C>G MANE Select	ENSP00000219478.5:p.Ala218Gly
ENST00000219478.10:c.653C>G	ENSP00000219478.5:p.Ala218Gly
ENST00000545009.1:c.653C>G	ENSP00000445714.1:p.Ala218Gly
ENST00000589422.1:c.*181C>G	ENSP00000466375.1:n.*181C>G
NM_001303450.1:c.653C>G	NP_001290379.1:p.Ala218Gly
NM_021646.2:c.653C>G	NP_067678.1:p.Ala218Gly
XM_005255243.2:c.302C>G	XP_005255300.1:p.Ala101Gly
XM_011522453.1:c.653C>G	XP_011520755.1:p.Ala218Gly
XM_011522454.1:c.29C>G	XP_011520756.1:p.Ala10Gly
NM_021646.3:c.653C>G	NP_067678.1:p.Ala218Gly
XM_005255243.4:c.302C>G	XP_005255300.1:p.Ala101Gly
XM_011522453.2:c.653C>G	XP_011520755.1:p.Ala218Gly
XM_011522454.3:c.29C>G	XP_011520756.1:p.Ala10Gly
XM_017023121.2:c.29C>G	XP_016878610.1:p.Ala10Gly
NM_001303450.2:c.653C>G	NP_001290379.1:p.Ala218Gly
NM_021646.4:c.653C>G MANE Select	NP_067678.1:p.Ala218Gly