Canonical Allele Identifier: CA2687823424
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575504-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575504G>T , CM000670.2:g.86575504G>T GRCh38
NC_000008.10:g.87587732G>T , CM000670.1:g.87587732G>T GRCh37
NC_000008.9:g.87656848G>T NCBI36
NG_016980.1:g.173172C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*300C>A MANE Select ENSP00000316605.5:n.*300C>A
ENST00000681546.1:n.2550C>A
ENST00000681746.1:c.*1141C>A ENSP00000505959.1:n.*1141C>A
ENST00000320005.5:c.*300C>A ENSP00000316605.5:n.*300C>A
ENST00000517327.5:c.276+3185C>A ENSP00000428329.1:n.276+3185C>A
NM_019098.4:c.*300C>A NP_061971.3:n.*300C>A
XM_011517138.1:c.*300C>A XP_011515440.1:n.*300C>A
XM_011517138.2:c.*300C>A XP_011515440.1:n.*300C>A
NM_019098.5:c.*300C>A MANE Select NP_061971.3:n.*300C>A
Search 100 bp 5'
Search 100 bp 3'