Canonical Allele Identifier: CA2687823138

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86574297-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574297C>A , CM000670.2:g.86574297C>A	GRCh38
NC_000008.10:g.87586525C>A , CM000670.1:g.87586525C>A	GRCh37
NC_000008.9:g.87655641C>A	NCBI36
NG_016980.1:g.174379G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1507G>T MANE Select	ENSP00000316605.5:n.*1507G>T
ENST00000681546.1:n.3757G>T
ENST00000681746.1:c.*2348G>T	ENSP00000505959.1:n.*2348G>T
ENST00000320005.5:c.*1507G>T	ENSP00000316605.5:n.*1507G>T
ENST00000517327.5:c.276+4392G>T	ENSP00000428329.1:n.276+4392G>T
NM_019098.4:c.*1507G>T	NP_061971.3:n.*1507G>T
XM_011517138.1:c.*1507G>T	XP_011515440.1:n.*1507G>T
XM_011517138.2:c.*1507G>T	XP_011515440.1:n.*1507G>T
NM_019098.5:c.*1507G>T MANE Select	NP_061971.3:n.*1507G>T