Canonical Allele Identifier: CA10654394
Gene: BRWD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 368713
ClinVar RCV Id: RCV000272289
dbSNP Id: rs193085939
gnomAD v2: X-79930116-C-T
gnomAD v3: X-80674617-C-T
gnomAD v4: X-80674617-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80674617C>T , CM000685.2:g.80674617C>T GRCh38
NC_000023.10:g.79930116C>T , CM000685.1:g.79930116C>T GRCh37
NC_000023.9:g.79816772C>T NCBI36
NG_021349.1:g.140118G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373275.5:c.*1992G>A MANE Select ENSP00000362372.4:n.*1992G>A
ENST00000373275.4:c.*1992G>A ENSP00000362372.4:n.*1992G>A
NM_153252.4:c.*1992G>A NP_694984.4:n.*1992G>A
XM_005262113.2:c.*1992G>A XP_005262170.1:n.*1992G>A
XM_011530903.1:c.*1992G>A XP_011529205.1:n.*1992G>A
XM_011530904.1:c.*1992G>A XP_011529206.1:n.*1992G>A
XM_005262113.3:c.*1992G>A XP_005262170.1:n.*1992G>A
NM_153252.5:c.*1992G>A MANE Select NP_694984.5:n.*1992G>A