Canonical Allele Identifier: CA156081

Gene: ZNF335

Linked Data

• ClinVar Variation Id: 130796
• ClinVar RCV Id: RCV000118913 ; RCV001511568 ; RCV002243767 ; RCV003975061
• dbSNP Id: rs41305805
• ExAC: 20:44587926 A / C
• gnomAD v2: 20-44587926-A-C
• gnomAD v3: 20-45959287-A-C
• gnomAD v4: 20-45959287-A-C
• MyVariant Identifiers: chr20:g.44587926A>C (hg19) ; chr20:g.45959287A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45959287A>C , CM000682.2:g.45959287A>C	GRCh38
NC_000020.10:g.44587926A>C , CM000682.1:g.44587926A>C	GRCh37
NC_000020.9:g.44021333A>C	NCBI36
NG_029772.1:g.17908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322927.3:c.2167T>G MANE Select	ENSP00000325326.2:p.Phe723Val
ENST00000322927.2:c.2167T>G	ENSP00000325326.2:p.Phe723Val
NM_022095.3:c.2167T>G	NP_071378.1:p.Phe723Val
XM_005260504.3:c.2164T>G	XP_005260561.1:p.Phe722Val
XM_005260506.2:c.1639T>G	XP_005260563.1:p.Phe547Val
XM_011528979.1:c.2167T>G	XP_011527281.1:p.Phe723Val
XR_936602.1:n.2678T>G
XR_936603.1:n.2679T>G
XR_936604.1:n.2679T>G
XM_005260504.4:c.2164T>G	XP_005260561.1:p.Phe722Val
XM_011528979.3:c.2167T>G	XP_011527281.1:p.Phe723Val
XM_017028012.1:c.1639T>G	XP_016883501.1:p.Phe547Val
XR_001754372.2:n.2658T>G
XR_002958500.1:n.2658T>G
XR_002958501.1:n.2658T>G
XR_936602.3:n.2658T>G
XR_936604.3:n.2658T>G
NM_022095.4:c.2167T>G MANE Select	NP_071378.1:p.Phe723Val