Canonical Allele Identifier: CA14947946
Gene: DGCR8 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.20111021G>A
GRCh37 chr22:g.20098544G>A
gnomAD v2:
22:20098544 G / A
gnomAD v3:
22:20111021 G / A
gnomAD v4:
chr22-20111021-G-A
Joint Max Group AF 0.08253057 (NFE)
Genomes Max Group AF 0.08447249 (NFE)
Exomes Max Group AF 0.08114251 (NFE)
ClinVar RCV:
RCV001687371
ClinVar Variation:
1274799
dbSNP:
417309
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20111021G>A , CM000684.2:g.20111021G>A GRCh38
NC_000022.10:g.20098544G>A , CM000684.1:g.20098544G>A GRCh37
NC_000022.9:g.18478544G>A NCBI36
NG_022931.1:g.35790G>A
NG_022931.2:g.35790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407755.2:c.*913G>A ENSP00000384726.1:n.*913G>A
ENST00000457069.2:c.*913G>A ENSP00000409625.2:n.*913G>A
ENST00000704820.1:c.*913G>A ENSP00000516052.1:n.*913G>A
ENST00000704821.1:c.*913G>A ENSP00000516053.1:n.*913G>A
ENST00000351989.8:c.*913G>A MANE Select ENSP00000263209.3:n.*913G>A
ENST00000351989.7:c.*913G>A ENSP00000263209.3:n.*913G>A
ENST00000383024.6:c.*913G>A ENSP00000372488.2:n.*913G>A
ENST00000407755.1:c.*913G>A ENSP00000384726.1:n.*913G>A
ENST00000475941.1:n.2429G>A
ENST00000495826.5:n.3844G>A
ENST00000498171.5:n.2805G>A
NM_001190326.1:c.*913G>A NP_001177255.1:n.*913G>A
NM_022720.6:c.*913G>A NP_073557.3:n.*913G>A
XM_006724268.2:c.*913G>A XP_006724331.1:n.*913G>A
XM_006724268.3:c.*913G>A XP_006724331.1:n.*913G>A
NM_022720.7:c.*913G>A MANE Select NP_073557.3:n.*913G>A
NM_001190326.2:c.*913G>A NP_001177255.1:n.*913G>A
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