Canonical Allele Identifier: CA1799825459
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823231514
gnomAD v3: 8-86643471-C-T
gnomAD v4: 8-86643471-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643471C>T , CM000670.2:g.86643471C>T GRCh38
NC_000008.10:g.87655699C>T , CM000670.1:g.87655699C>T GRCh37
NC_000008.9:g.87724815C>T NCBI36
NG_016980.1:g.105205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+280G>A MANE Select ENSP00000316605.5:n.1178+280G>A
ENST00000681546.1:n.998+280G>A
ENST00000681746.1:c.1178+280G>A ENSP00000505959.1:n.1178+280G>A
ENST00000320005.5:c.1178+280G>A ENSP00000316605.5:n.1178+280G>A
NM_019098.4:c.1178+280G>A NP_061971.3:n.1178+280G>A
XM_011517138.1:c.764+280G>A XP_011515440.1:n.764+280G>A
XM_011517138.2:c.764+280G>A XP_011515440.1:n.764+280G>A
NM_019098.5:c.1178+280G>A MANE Select NP_061971.3:n.1178+280G>A
Search 100 bp 5'
Search 100 bp 3'