Canonical Allele Identifier: CA156145
Gene: ZNF526 HGNC NCBI

Linked Data

ClinVar Variation Id: 130836
ClinVar RCV Id: RCV000118952 RCV000959277
dbSNP Id: rs111722832
ExAC: 19:42730217 C / T
gnomAD v2: 19-42730217-C-T
gnomAD v3: 19-42226065-C-T
gnomAD v4: 19-42226065-C-T
COSMIC: COSM3692810
MyVariant Identifiers: chr19:g.42730217C>T (hg19) chr19:g.42226065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42226065C>T , CM000681.2:g.42226065C>T GRCh38
NC_000019.9:g.42730217C>T , CM000681.1:g.42730217C>T GRCh37
NC_000019.8:g.47422057C>T NCBI36
NG_053183.1:g.10795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710326.1:c.1662C>T ENSP00000518206.1:p.Val554=
ENST00000301215.8:c.1662C>T MANE Select ENSP00000301215.2:p.Val554=
ENST00000678490.1:c.93+5992G>A
ENST00000301215.7:c.1662C>T ENSP00000301215.2:p.Val554=
NM_001314033.1:c.1662C>T NP_001300962.1:p.Val554=
NM_133444.1:c.1662C>T NP_597701.1:p.Val554=
NM_133444.2:c.1662C>T NP_597701.1:p.Val554=
NM_001314033.2:c.1662C>T NP_001300962.1:p.Val554=
NM_001314033.3:c.1662C>T NP_001300962.1:p.Val554=
NM_133444.3:c.1662C>T MANE Select NP_597701.1:p.Val554=
Search 100 bp 5'
Search 100 bp 3'