Canonical Allele Identifier: CA582914188
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1196535883
gnomAD v2: 8-87644916-A-G
gnomAD v3: 8-86632688-A-G
gnomAD v4: 8-86632688-A-G
MyVariant Identifiers: chr8:g.87644916A>G (hg19) chr8:g.86632688A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632688A>G , CM000670.2:g.86632688A>G GRCh38
NC_000008.10:g.87644916A>G , CM000670.1:g.87644916A>G GRCh37
NC_000008.9:g.87714032A>G NCBI36
NG_016980.1:g.115988T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1320+64T>C MANE Select ENSP00000316605.5:n.1320+64T>C
ENST00000681546.1:n.1140+64T>C
ENST00000681746.1:c.1320+64T>C ENSP00000505959.1:n.1320+64T>C
ENST00000320005.5:c.1320+64T>C ENSP00000316605.5:n.1320+64T>C
NM_019098.4:c.1320+64T>C NP_061971.3:n.1320+64T>C
XM_011517138.1:c.906+64T>C XP_011515440.1:n.906+64T>C
XM_011517138.2:c.906+64T>C XP_011515440.1:n.906+64T>C
NM_019098.5:c.1320+64T>C MANE Select NP_061971.3:n.1320+64T>C
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