Canonical Allele Identifier: CA583027408
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1612188
ClinVar RCV Id: RCV002168449
dbSNP Id: rs1471220581
gnomAD v2: 8-87751868-A-C
gnomAD v3: 8-86739640-A-C
gnomAD v4: 8-86739640-A-C
MyVariant Identifiers: chr8:g.87751868A>C (hg19) chr8:g.86739640A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739640A>C , CM000670.2:g.86739640A>C GRCh38
NC_000008.10:g.87751868A>C , CM000670.1:g.87751868A>C GRCh37
NC_000008.9:g.87820984A>C NCBI36
NG_016980.1:g.9036T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+15T>G MANE Select ENSP00000316605.5:n.211+15T>G
ENST00000681746.1:c.211+15T>G ENSP00000505959.1:n.211+15T>G
ENST00000320005.5:c.211+15T>G ENSP00000316605.5:n.211+15T>G
ENST00000519777.1:n.193+15T>G
NM_019098.4:c.211+15T>G NP_061971.3:n.211+15T>G
NM_019098.5:c.211+15T>G MANE Select NP_061971.3:n.211+15T>G
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