Canonical Allele Identifier: CA2687823501
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575633-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575633T>C , CM000670.2:g.86575633T>C GRCh38
NC_000008.10:g.87587861T>C , CM000670.1:g.87587861T>C GRCh37
NC_000008.9:g.87656977T>C NCBI36
NG_016980.1:g.173043A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*171A>G MANE Select ENSP00000316605.5:n.*171A>G
ENST00000681546.1:n.2421A>G
ENST00000681746.1:c.*1012A>G ENSP00000505959.1:n.*1012A>G
ENST00000320005.5:c.*171A>G ENSP00000316605.5:n.*171A>G
ENST00000517327.5:c.276+3056A>G ENSP00000428329.1:n.276+3056A>G
NM_019098.4:c.*171A>G NP_061971.3:n.*171A>G
XM_011517138.1:c.*171A>G XP_011515440.1:n.*171A>G
XM_011517138.2:c.*171A>G XP_011515440.1:n.*171A>G
NM_019098.5:c.*171A>G MANE Select NP_061971.3:n.*171A>G
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