Canonical Allele Identifier: CA4443218
Gene: ZNF277 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.112330157C>T
GRCh37 chr7:g.111970212C>T
Revel Score:
ENST00000361822 (MANE Select) 0.574
ENST00000425229 0.574
ENST00000450657 0.574
gnomAD v2:
7:111970212 C / T
gnomAD v3:
7:112330157 C / T
gnomAD v4:
chr7-112330157-C-T
Joint Max Group AF 0.00000543 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV004082233
ClinVar Variation:
2213603
dbSNP:
201172958
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.112330157C>T , CM000669.2:g.112330157C>T GRCh38
NC_000007.13:g.111970212C>T , CM000669.1:g.111970212C>T GRCh37
NC_000007.12:g.111757448C>T NCBI36
NG_041797.1:g.128570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361822.8:c.742C>T MANE Select ENSP00000354501.3:p.His248Tyr
ENST00000361822.7:c.742C>T ENSP00000354501.3:p.His248Tyr
ENST00000361946.8:c.*585C>T ENSP00000355043.4:n.*585C>T
ENST00000425229.5:c.478C>T ENSP00000390359.1:p.His160Tyr
ENST00000450657.1:c.742C>T ENSP00000402292.1:p.His248Tyr
ENST00000457808.5:c.*329C>T ENSP00000402846.1:n.*329C>T
NM_021994.2:c.742C>T NP_068834.2:p.His248Tyr
XM_005250129.2:c.388C>T XP_005250186.1:p.His130Tyr
XM_011515768.1:c.508C>T XP_011514070.1:p.His170Tyr
XM_005250129.4:c.388C>T XP_005250186.1:p.His130Tyr
XM_011515768.3:c.508C>T XP_011514070.1:p.His170Tyr
XM_017011720.2:c.388C>T XP_016867209.1:p.His130Tyr
NM_021994.3:c.742C>T MANE Select NP_068834.2:p.His248Tyr
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