Canonical Allele Identifier: CA9470457
Gene: ZNF526 HGNC NCBI

Linked Data

ClinVar Variation Id: 437386
ClinVar RCV Id: RCV000503578 RCV003935318
dbSNP Id: rs138082392
ExAC: 19:42729380 C / T
gnomAD v2: 19-42729380-C-T
gnomAD v3: 19-42225228-C-T
gnomAD v4: 19-42225228-C-T
COSMIC: COSM4078688
MyVariant Identifiers: chr19:g.42729380C>T (hg19) chr19:g.42225228C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42225228C>T , CM000681.2:g.42225228C>T GRCh38
NC_000019.9:g.42729380C>T , CM000681.1:g.42729380C>T GRCh37
NC_000019.8:g.47421220C>T NCBI36
NG_053183.1:g.9958C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710326.1:c.825C>T ENSP00000518206.1:p.Cys275=
ENST00000301215.8:c.825C>T MANE Select ENSP00000301215.2:p.Cys275=
ENST00000678490.1:c.93+6829G>A
ENST00000301215.7:c.825C>T ENSP00000301215.2:p.Cys275=
NM_001314033.1:c.825C>T NP_001300962.1:p.Cys275=
NM_133444.1:c.825C>T NP_597701.1:p.Cys275=
NM_133444.2:c.825C>T NP_597701.1:p.Cys275=
NM_001314033.2:c.825C>T NP_001300962.1:p.Cys275=
NM_001314033.3:c.825C>T NP_001300962.1:p.Cys275=
NM_133444.3:c.825C>T MANE Select NP_597701.1:p.Cys275=
Search 100 bp 5'
Search 100 bp 3'