Canonical Allele Identifier: CA1116230090
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823235278
gnomAD v3: 8-86643704-A-C
gnomAD v4: 8-86643704-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643704A>C , CM000670.2:g.86643704A>C GRCh38
NC_000008.10:g.87655932A>C , CM000670.1:g.87655932A>C GRCh37
NC_000008.9:g.87725048A>C NCBI36
NG_016980.1:g.104972T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+47T>G MANE Select ENSP00000316605.5:n.1178+47T>G
ENST00000681546.1:n.998+47T>G
ENST00000681746.1:c.1178+47T>G ENSP00000505959.1:n.1178+47T>G
ENST00000320005.5:c.1178+47T>G ENSP00000316605.5:n.1178+47T>G
NM_019098.4:c.1178+47T>G NP_061971.3:n.1178+47T>G
XM_011517138.1:c.764+47T>G XP_011515440.1:n.764+47T>G
XM_011517138.2:c.764+47T>G XP_011515440.1:n.764+47T>G
NM_019098.5:c.1178+47T>G MANE Select NP_061971.3:n.1178+47T>G
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