Canonical Allele Identifier: CA2687823449
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575552-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575552C>G , CM000670.2:g.86575552C>G GRCh38
NC_000008.10:g.87587780C>G , CM000670.1:g.87587780C>G GRCh37
NC_000008.9:g.87656896C>G NCBI36
NG_016980.1:g.173124G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*252G>C MANE Select ENSP00000316605.5:n.*252G>C
ENST00000681546.1:n.2502G>C
ENST00000681746.1:c.*1093G>C ENSP00000505959.1:n.*1093G>C
ENST00000320005.5:c.*252G>C ENSP00000316605.5:n.*252G>C
ENST00000517327.5:c.276+3137G>C ENSP00000428329.1:n.276+3137G>C
NM_019098.4:c.*252G>C NP_061971.3:n.*252G>C
XM_011517138.1:c.*252G>C XP_011515440.1:n.*252G>C
XM_011517138.2:c.*252G>C XP_011515440.1:n.*252G>C
NM_019098.5:c.*252G>C MANE Select NP_061971.3:n.*252G>C
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