Canonical Allele Identifier: CA394620377

Gene: ZNF500

Linked Data

• gnomAD v4: 16-4762586-C-G
• MyVariant Identifiers: chr16:g.4812587C>G (hg19) ; chr16:g.4762586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762586C>G , CM000678.2:g.4762586C>G	GRCh38
NC_000016.9:g.4812587C>G , CM000678.1:g.4812587C>G	GRCh37
NC_000016.8:g.4752588C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.585G>C MANE Select	ENSP00000219478.5:p.Leu195Phe
ENST00000219478.10:c.585G>C	ENSP00000219478.5:p.Leu195Phe
ENST00000545009.1:c.585G>C	ENSP00000445714.1:p.Leu195Phe
ENST00000589422.1:c.*113G>C	ENSP00000466375.1:n.*113G>C
NM_001303450.1:c.585G>C	NP_001290379.1:p.Leu195Phe
NM_021646.2:c.585G>C	NP_067678.1:p.Leu195Phe
XM_005255243.2:c.234G>C	XP_005255300.1:p.Leu78Phe
XM_011522453.1:c.585G>C	XP_011520755.1:p.Leu195Phe
XM_011522454.1:c.-40G>C	XP_011520756.1:n.-40G>C
NM_021646.3:c.585G>C	NP_067678.1:p.Leu195Phe
XM_005255243.4:c.234G>C	XP_005255300.1:p.Leu78Phe
XM_011522453.2:c.585G>C	XP_011520755.1:p.Leu195Phe
XM_011522454.3:c.-40G>C	XP_011520756.1:n.-40G>C
XM_017023121.2:c.-40G>C	XP_016878610.1:n.-40G>C
NM_001303450.2:c.585G>C	NP_001290379.1:p.Leu195Phe
NM_021646.4:c.585G>C MANE Select	NP_067678.1:p.Leu195Phe