Canonical Allele Identifier: CA2687825150
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643641-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643641C>T , CM000670.2:g.86643641C>T GRCh38
NC_000008.10:g.87655869C>T , CM000670.1:g.87655869C>T GRCh37
NC_000008.9:g.87724985C>T NCBI36
NG_016980.1:g.105035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+110G>A MANE Select ENSP00000316605.5:n.1178+110G>A
ENST00000681546.1:n.998+110G>A
ENST00000681746.1:c.1178+110G>A ENSP00000505959.1:n.1178+110G>A
ENST00000320005.5:c.1178+110G>A ENSP00000316605.5:n.1178+110G>A
NM_019098.4:c.1178+110G>A NP_061971.3:n.1178+110G>A
XM_011517138.1:c.764+110G>A XP_011515440.1:n.764+110G>A
XM_011517138.2:c.764+110G>A XP_011515440.1:n.764+110G>A
NM_019098.5:c.1178+110G>A MANE Select NP_061971.3:n.1178+110G>A
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