Canonical Allele Identifier: CA582914214
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1452567050
gnomAD v2: 8-87644936-C-CA
gnomAD v3: 8-86632708-C-CA
gnomAD v4: 8-86632708-C-CA
MyVariant Identifiers: chr8:g.87644936_87644937insA (hg19) chr8:g.86632708_86632709insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632712dup , CM000670.2:g.86632712dup GRCh38
NC_000008.10:g.87644940dup , CM000670.1:g.87644940dup GRCh37
NC_000008.9:g.87714056dup NCBI36
NG_016980.1:g.115967dup

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1320+43dup MANE Select ENSP00000316605.5:n.1320+43dup
ENST00000681546.1:n.1140+43dup
ENST00000681746.1:c.1320+43dup ENSP00000505959.1:n.1320+43dup
ENST00000320005.5:c.1320+43dup ENSP00000316605.5:n.1320+43dup
NM_019098.4:c.1320+43dup NP_061971.3:n.1320+43dup
XM_011517138.1:c.906+43dup XP_011515440.1:n.906+43dup
XM_011517138.2:c.906+43dup XP_011515440.1:n.906+43dup
NM_019098.5:c.1320+43dup MANE Select NP_061971.3:n.1320+43dup
Search 100 bp 5'
Search 100 bp 3'