Canonical Allele Identifier: CA4800416
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2187026
ClinVar RCV Id: RCV002611288
dbSNP Id: rs754804590
ExAC: 8:87683311 CG / C
gnomAD v2: 8-87683311-CG-C
gnomAD v4: 8-86671083-CG-C
MyVariant Identifiers: chr8:g.87683312del (hg19) chr8:g.86671084del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671085del , CM000670.2:g.86671085del GRCh38
NC_000008.10:g.87683313del , CM000670.1:g.87683313del GRCh37
NC_000008.9:g.87752429del NCBI36
NG_016980.1:g.77592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.353del MANE Select ENSP00000316605.5:p.Pro118ArgfsTer7
ENST00000680314.1:n.114del
ENST00000681746.1:c.353del ENSP00000505959.1:p.Pro118ArgfsTer7
ENST00000320005.5:c.353del ENSP00000316605.5:p.Pro118ArgfsTer7
NM_019098.4:c.353del NP_061971.3:p.Pro118ArgfsTer7
XM_011517138.1:c.-62del XP_011515440.1:n.-62del
XM_011517138.2:c.-62del XP_011515440.1:n.-62del
NM_019098.5:c.353del MANE Select NP_061971.3:p.Pro118ArgfsTer7
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