Canonical Allele Identifier: CA4800429
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs771919793
ExAC: 8:87683365 GA / G
gnomAD v2: 8-87683365-GA-G
gnomAD v4: 8-86671137-GA-G
MyVariant Identifiers: chr8:g.87683366del (hg19) chr8:g.86671138del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671139del , CM000670.2:g.86671139del GRCh38
NC_000008.10:g.87683367del , CM000670.1:g.87683367del GRCh37
NC_000008.9:g.87752483del NCBI36
NG_016980.1:g.77538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-40del MANE Select ENSP00000316605.5:n.339-40del
ENST00000680314.1:n.100-40del
ENST00000681746.1:c.339-40del ENSP00000505959.1:n.339-40del
ENST00000320005.5:c.339-40del ENSP00000316605.5:n.339-40del
NM_019098.4:c.339-40del NP_061971.3:n.339-40del
XM_011517138.1:c.-76-40del XP_011515440.1:n.-76-40del
XM_011517138.2:c.-76-40del XP_011515440.1:n.-76-40del
NM_019098.5:c.339-40del MANE Select NP_061971.3:n.339-40del
Search 100 bp 5'
Search 100 bp 3'