Canonical Allele Identifier: CA15956486
Gene: ZNF230 HGNC NCBI
COSMIC:
COSN19620985 (not active)
MyVariant.info:
GRCh38 chr19:g.44007237G>T
GRCh37 chr19:g.44511389G>T
gnomAD v2:
19:44511389 G / T
gnomAD v3:
19:44007237 G / T
gnomAD v4:
chr19-44007237-G-T
Joint Max Group AF 0.69549579 (NFE)
Genomes Max Group AF 0.70394458 (NFE)
Exomes Max Group AF 0.69322303 (NFE)
dbSNP:
2191566
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44007237G>T , CM000681.2:g.44007237G>T GRCh38
NC_000019.9:g.44511389G>T , CM000681.1:g.44511389G>T GRCh37
NC_000019.8:g.49203229G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429154.7:c.15+144G>T MANE Select ENSP00000409318.1:n.15+144G>T
ENST00000429154.6:c.15+144G>T ENSP00000409318.1:n.15+144G>T
ENST00000585491.1:c.15+144G>T ENSP00000466541.1:n.15+144G>T
ENST00000585568.5:c.15+144G>T ENSP00000465324.1:n.15+144G>T
ENST00000585632.5:c.15+144G>T ENSP00000465988.1:n.15+144G>T
NM_006300.3:c.15+144G>T NP_006291.2:n.15+144G>T
XM_011527293.1:c.15+144G>T XP_011525595.1:n.15+144G>T
NM_006300.4:c.15+144G>T MANE Select NP_006291.2:n.15+144G>T
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