Canonical Allele Identifier: CA2687823422

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86575502-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575502C>A , CM000670.2:g.86575502C>A	GRCh38
NC_000008.10:g.87587730C>A , CM000670.1:g.87587730C>A	GRCh37
NC_000008.9:g.87656846C>A	NCBI36
NG_016980.1:g.173174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*302G>T MANE Select	ENSP00000316605.5:n.*302G>T
ENST00000681546.1:n.2552G>T
ENST00000681746.1:c.*1143G>T	ENSP00000505959.1:n.*1143G>T
ENST00000320005.5:c.*302G>T	ENSP00000316605.5:n.*302G>T
ENST00000517327.5:c.276+3187G>T	ENSP00000428329.1:n.276+3187G>T
NM_019098.4:c.*302G>T	NP_061971.3:n.*302G>T
XM_011517138.1:c.*302G>T	XP_011515440.1:n.*302G>T
XM_011517138.2:c.*302G>T	XP_011515440.1:n.*302G>T
NM_019098.5:c.*302G>T MANE Select	NP_061971.3:n.*302G>T