Canonical Allele Identifier: CA2514259954
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575646-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575646A>G , CM000670.2:g.86575646A>G GRCh38
NC_000008.10:g.87587874A>G , CM000670.1:g.87587874A>G GRCh37
NC_000008.9:g.87656990A>G NCBI36
NG_016980.1:g.173030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*158T>C MANE Select ENSP00000316605.5:n.*158T>C
ENST00000681546.1:n.2408T>C
ENST00000681746.1:c.*999T>C ENSP00000505959.1:n.*999T>C
ENST00000320005.5:c.*158T>C ENSP00000316605.5:n.*158T>C
ENST00000517327.5:c.276+3043T>C ENSP00000428329.1:n.276+3043T>C
NM_019098.4:c.*158T>C NP_061971.3:n.*158T>C
XM_011517138.1:c.*158T>C XP_011515440.1:n.*158T>C
XM_011517138.2:c.*158T>C XP_011515440.1:n.*158T>C
NM_019098.5:c.*158T>C MANE Select NP_061971.3:n.*158T>C
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