Canonical Allele Identifier: CA2687823426
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575513-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575513A>G , CM000670.2:g.86575513A>G GRCh38
NC_000008.10:g.87587741A>G , CM000670.1:g.87587741A>G GRCh37
NC_000008.9:g.87656857A>G NCBI36
NG_016980.1:g.173163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*291T>C MANE Select ENSP00000316605.5:n.*291T>C
ENST00000681546.1:n.2541T>C
ENST00000681746.1:c.*1132T>C ENSP00000505959.1:n.*1132T>C
ENST00000320005.5:c.*291T>C ENSP00000316605.5:n.*291T>C
ENST00000517327.5:c.276+3176T>C ENSP00000428329.1:n.276+3176T>C
NM_019098.4:c.*291T>C NP_061971.3:n.*291T>C
XM_011517138.1:c.*291T>C XP_011515440.1:n.*291T>C
XM_011517138.2:c.*291T>C XP_011515440.1:n.*291T>C
NM_019098.5:c.*291T>C MANE Select NP_061971.3:n.*291T>C
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