This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA9465541
Gene: CD79A HGNC NCBI
ClinVar RCV:
RCV001035807
ClinVar Variation:
835007
dbSNP:
199967393
gnomAD v2:
19:42383204 C / T
gnomAD v3:
19:41879134 C / T
gnomAD v4:
chr19-41879134-C-T
Joint Max Group AF 0.0007823 (SAS)
Genomes Max Group AF 0.0002819 (SAS)
Exomes Max Group AF 0.00078388 (SAS)
MyVariant.info:
GRCh38 chr19:g.41879134C>T
GRCh37 chr19:g.42383204C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41879134C>T , CM000681.2:g.41879134C>T GRCh38
NC_000019.9:g.42383204C>T , CM000681.1:g.42383204C>T GRCh37
NC_000019.8:g.47075044C>T NCBI36
NG_009619.1:g.7015C>T , LRG_42:g.7015C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000597454.2:c.224C>T ENSP00000468922.2:p.Thr75Met
ENST00000221972.8:c.224C>T MANE Select ENSP00000221972.3:p.Thr75Met
ENST00000221972.7:c.224C>T ENSP00000221972.3:p.Thr75Met
ENST00000444740.2:c.224C>T ENSP00000400605.1:p.Thr75Met
ENST00000597454.1:c.224C>T ENSP00000468922.1:p.Thr75Met
NM_001783.3:c.224C>T , LRG_42t1:c.224C>T NP_001774.1:p.Thr75Met
NM_021601.3:c.224C>T NP_067612.1:p.Thr75Met
NM_001783.4:c.224C>T MANE Select NP_001774.1:p.Thr75Met
NM_021601.4:c.224C>T NP_067612.1:p.Thr75Met
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