Canonical Allele Identifier: CA1116229316

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821640933
• gnomAD v3: 8-86575518-T-A
• gnomAD v4: 8-86575518-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575518T>A , CM000670.2:g.86575518T>A	GRCh38
NC_000008.10:g.87587746T>A , CM000670.1:g.87587746T>A	GRCh37
NC_000008.9:g.87656862T>A	NCBI36
NG_016980.1:g.173158A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*286A>T MANE Select	ENSP00000316605.5:n.*286A>T
ENST00000681546.1:n.2536A>T
ENST00000681746.1:c.*1127A>T	ENSP00000505959.1:n.*1127A>T
ENST00000320005.5:c.*286A>T	ENSP00000316605.5:n.*286A>T
ENST00000517327.5:c.276+3171A>T	ENSP00000428329.1:n.276+3171A>T
NM_019098.4:c.*286A>T	NP_061971.3:n.*286A>T
XM_011517138.1:c.*286A>T	XP_011515440.1:n.*286A>T
XM_011517138.2:c.*286A>T	XP_011515440.1:n.*286A>T
NM_019098.5:c.*286A>T MANE Select	NP_061971.3:n.*286A>T