Canonical Allele Identifier: CA583366255
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1166870923
gnomAD v2: 8-87679385-A-G
gnomAD v4: 8-86667157-A-G
MyVariant Identifiers: chr8:g.87679385A>G (hg19) chr8:g.86667157A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667157A>G , CM000670.2:g.86667157A>G GRCh38
NC_000008.10:g.87679385A>G , CM000670.1:g.87679385A>G GRCh37
NC_000008.9:g.87748501A>G NCBI36
NG_016980.1:g.81519T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.644-24T>C MANE Select ENSP00000316605.5:n.644-24T>C
ENST00000681746.1:c.644-24T>C ENSP00000505959.1:n.644-24T>C
ENST00000320005.5:c.644-24T>C ENSP00000316605.5:n.644-24T>C
NM_019098.4:c.644-24T>C NP_061971.3:n.644-24T>C
XM_011517138.1:c.230-24T>C XP_011515440.1:n.230-24T>C
XM_011517138.2:c.230-24T>C XP_011515440.1:n.230-24T>C
NM_019098.5:c.644-24T>C MANE Select NP_061971.3:n.644-24T>C
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