Canonical Allele Identifier: CA2520807
Gene: ZBTB11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.101651191A>G
GRCh37 chr3:g.101370035A>G
Revel Score:
ENST00000312938 (MANE Select) 0.292
gnomAD v2:
3:101370035 A / G
gnomAD v3:
3:101651191 A / G
gnomAD v4:
chr3-101651191-A-G
Joint Max Group AF 0.00000767 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000814 (NFE)
ClinVar RCV:
RCV004159464
ClinVar Variation:
2316271
dbSNP:
753351706
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101651191A>G , CM000665.2:g.101651191A>G GRCh38
NC_000003.11:g.101370035A>G , CM000665.1:g.101370035A>G GRCh37
NC_000003.10:g.102852725A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000704109.1:n.1457T>C
ENST00000704110.1:n.2624T>C
ENST00000704111.1:c.2891T>C ENSP00000515702.1:p.Val964Ala
ENST00000704112.1:n.3971T>C
ENST00000704113.1:n.4847T>C
ENST00000704114.1:n.2080T>C
ENST00000688910.1:c.2735T>C ENSP00000510736.1:p.Val912Ala
ENST00000689142.1:c.*2431T>C ENSP00000510054.1:n.*2431T>C
ENST00000690624.1:c.2651T>C ENSP00000509924.1:p.Val884Ala
ENST00000690651.1:c.*232T>C ENSP00000510062.1:n.*232T>C
ENST00000312938.5:c.3137T>C MANE Select ENSP00000326200.4:p.Val1046Ala
ENST00000312938.4:c.3137T>C ENSP00000326200.4:p.Val1046Ala
NM_014415.3:c.3137T>C NP_055230.2:p.Val1046Ala
XM_011512689.1:c.2942T>C XP_011510991.1:p.Val981Ala
XM_011512690.1:c.2285T>C XP_011510992.1:p.Val762Ala
XM_011512689.2:c.2942T>C XP_011510991.1:p.Val981Ala
XM_011512690.2:c.2285T>C XP_011510992.1:p.Val762Ala
NM_014415.4:c.3137T>C MANE Select NP_055230.2:p.Val1046Ala
Search 100 bp 5'
Search 100 bp 3'