Canonical Allele Identifier: CA180328821
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171642
ClinVar RCV Id: RCV003095814
dbSNP Id: rs749597083
gnomAD v2: 8-87588333-TCTC-T
gnomAD v3: 8-86576105-TCTC-T
gnomAD v4: 8-86576105-TCTC-T
MyVariant Identifiers: chr8:g.87588334_87588336del (hg19) chr8:g.86576106_86576108del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576111_86576113del , CM000670.2:g.86576111_86576113del GRCh38
NC_000008.10:g.87588339_87588341del , CM000670.1:g.87588339_87588341del GRCh37
NC_000008.9:g.87657455_87657457del NCBI36
NG_016980.1:g.172568_172570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2126_2128del MANE Select ENSP00000316605.5:p.Gly709del
ENST00000681546.1:n.1946_1948del
ENST00000681746.1:c.*537_*539del ENSP00000505959.1:n.*537_*539del
ENST00000320005.5:c.2126_2128del ENSP00000316605.5:p.Gly709del
ENST00000517327.5:c.276+2581_276+2583del ENSP00000428329.1:n.276+2581_276+2583del
NM_019098.4:c.2126_2128del NP_061971.3:p.Gly709del
XM_011517138.1:c.1712_1714del XP_011515440.1:p.Gly571del
XM_011517138.2:c.1712_1714del XP_011515440.1:p.Gly571del
NM_019098.5:c.2126_2128del MANE Select NP_061971.3:p.Gly709del
Search 100 bp 5'
Search 100 bp 3'