Canonical Allele Identifier: CA583366056
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 910437
ClinVar RCV Id: RCV001162212 RCV001162211
dbSNP Id: rs1199541859
gnomAD v2: 8-87587849-T-G
gnomAD v3: 8-86575621-T-G
gnomAD v4: 8-86575621-T-G
MyVariant Identifiers: chr8:g.87587849T>G (hg19) chr8:g.86575621T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575621T>G , CM000670.2:g.86575621T>G GRCh38
NC_000008.10:g.87587849T>G , CM000670.1:g.87587849T>G GRCh37
NC_000008.9:g.87656965T>G NCBI36
NG_016980.1:g.173055A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*183A>C MANE Select ENSP00000316605.5:n.*183A>C
ENST00000681546.1:n.2433A>C
ENST00000681746.1:c.*1024A>C ENSP00000505959.1:n.*1024A>C
ENST00000320005.5:c.*183A>C ENSP00000316605.5:n.*183A>C
ENST00000517327.5:c.276+3068A>C ENSP00000428329.1:n.276+3068A>C
NM_019098.4:c.*183A>C NP_061971.3:n.*183A>C
XM_011517138.1:c.*183A>C XP_011515440.1:n.*183A>C
XM_011517138.2:c.*183A>C XP_011515440.1:n.*183A>C
NM_019098.5:c.*183A>C MANE Select NP_061971.3:n.*183A>C
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