Canonical Allele Identifier: CA13372946
Gene: SBF2 HGNC NCBI
ADM-DT HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.10303778C>A
GRCh37 chr11:g.10325325C>A
gnomAD v2:
11:10325325 C / A
gnomAD v3:
11:10303778 C / A
gnomAD v4:
chr11-10303778-C-A
Joint Max Group AF 0.46872596 (NFE)
Genomes Max Group AF 0.46868392 (NFE)
Exomes Max Group AF 0.37894029 (NFE)
dbSNP:
11042725
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.10303778C>A , CM000673.2:g.10303778C>A GRCh38
NC_000011.9:g.10325325C>A , CM000673.1:g.10325325C>A GRCh37
NC_000011.8:g.10281901C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000685217.1:n.386+714G>T (SBF2)
XM_011520536.1:c.309+273G>T (ADM-DT) XP_011518838.1:n.309+273G>T
XR_001748472.2:n.1210G>T (ADM-DT)
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