Canonical Allele Identifier: CA4799839
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86578855del
GRCh37 chr8:g.87591083del
gnomAD v2:
8:87591082 TA / T
gnomAD v3:
8:86578854 TA / T
gnomAD v4:
chr8-86578854-TA-T
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000409769
RCV002524616
ClinVar Variation:
370089
dbSNP:
745557293
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86578858del , CM000670.2:g.86578858del GRCh38
NC_000008.10:g.87591086del , CM000670.1:g.87591086del GRCh37
NC_000008.9:g.87660202del NCBI36
NG_016980.1:g.169821del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1937del MANE Select ENSP00000316605.5:p.Leu646Ter
ENST00000681546.1:n.1757del
ENST00000681746.1:c.*348del ENSP00000505959.1:n.*348del
ENST00000320005.5:c.1937del ENSP00000316605.5:p.Leu646Ter
ENST00000517327.5:c.110del ENSP00000428329.1:p.Leu37Ter
NM_019098.4:c.1937del NP_061971.3:p.Leu646Ter
XM_011517138.1:c.1523del XP_011515440.1:p.Leu508Ter
XM_011517138.2:c.1523del XP_011515440.1:p.Leu508Ter
NM_019098.5:c.1937del MANE Select NP_061971.3:p.Leu646Ter
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