Canonical Allele Identifier: CA1121778
Gene: DENND4B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.153941294A>G
GRCh37 chr1:g.153913770A>G
gnomAD v2:
1:153913770 A / G
gnomAD v3:
1:153941294 A / G
gnomAD v4:
chr1-153941294-A-G
Joint Max Group AF 0.93784663 (EAS)
Genomes Max Group AF 0.91999283 (EAS)
Exomes Max Group AF 0.93779767 (EAS)
dbSNP:
2252508
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153941294A>G , CM000663.2:g.153941294A>G GRCh38
NC_000001.10:g.153913770A>G , CM000663.1:g.153913770A>G GRCh37
NC_000001.9:g.152180394A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361217.9:c.1123-5T>C MANE Select ENSP00000354597.4:n.1123-5T>C
ENST00000361217.8:c.1123-5T>C ENSP00000354597.4:n.1123-5T>C
ENST00000368646.6:c.1156-5T>C ENSP00000357635.2:n.1156-5T>C
ENST00000483561.2:n.444-5T>C
ENST00000494683.1:n.62-5T>C
NM_014856.2:c.1123-5T>C NP_055671.2:n.1123-5T>C
XM_005245678.3:c.1156-5T>C XP_005245735.1:n.1156-5T>C
XM_005245679.2:c.1123-5T>C XP_005245736.1:n.1123-5T>C
XM_011510219.1:c.1123-5T>C XP_011508521.1:n.1123-5T>C
XM_011510220.1:c.808-5T>C XP_011508522.1:n.808-5T>C
XM_011510221.1:c.517-5T>C XP_011508523.1:n.517-5T>C
XM_011510222.1:c.1123-5T>C XP_011508524.1:n.1123-5T>C
XR_426806.2:n.1146-5T>C
XM_005245678.4:c.1156-5T>C XP_005245735.1:n.1156-5T>C
XM_011510220.2:c.808-5T>C XP_011508522.1:n.808-5T>C
XM_011510221.3:c.517-5T>C XP_011508523.1:n.517-5T>C
NM_001367466.1:c.1156-5T>C NP_001354395.1:n.1156-5T>C
NM_014856.3:c.1123-5T>C MANE Select NP_055671.2:n.1123-5T>C
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