Canonical Allele Identifier: CA2687823129
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86574256-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574256G>T , CM000670.2:g.86574256G>T GRCh38
NC_000008.10:g.87586484G>T , CM000670.1:g.87586484G>T GRCh37
NC_000008.9:g.87655600G>T NCBI36
NG_016980.1:g.174420C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1548C>A MANE Select ENSP00000316605.5:n.*1548C>A
ENST00000681546.1:n.3798C>A
ENST00000681746.1:c.*2389C>A ENSP00000505959.1:n.*2389C>A
ENST00000320005.5:c.*1548C>A ENSP00000316605.5:n.*1548C>A
ENST00000517327.5:c.276+4433C>A ENSP00000428329.1:n.276+4433C>A
NM_019098.4:c.*1548C>A NP_061971.3:n.*1548C>A
XM_011517138.1:c.*1548C>A XP_011515440.1:n.*1548C>A
XM_011517138.2:c.*1548C>A XP_011515440.1:n.*1548C>A
NM_019098.5:c.*1548C>A MANE Select NP_061971.3:n.*1548C>A
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