Canonical Allele Identifier: CA180328572

Gene: CNGB3

Linked Data

• dbSNP Id: rs150149878
• gnomAD v2: 8-87587765-G-T
• gnomAD v3: 8-86575537-G-T
• gnomAD v4: 8-86575537-G-T
• MyVariant Identifiers: chr8:g.87587765G>T (hg19) ; chr8:g.86575537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575537G>T , CM000670.2:g.86575537G>T	GRCh38
NC_000008.10:g.87587765G>T , CM000670.1:g.87587765G>T	GRCh37
NC_000008.9:g.87656881G>T	NCBI36
NG_016980.1:g.173139C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*267C>A MANE Select	ENSP00000316605.5:n.*267C>A
ENST00000681546.1:n.2517C>A
ENST00000681746.1:c.*1108C>A	ENSP00000505959.1:n.*1108C>A
ENST00000320005.5:c.*267C>A	ENSP00000316605.5:n.*267C>A
ENST00000517327.5:c.276+3152C>A	ENSP00000428329.1:n.276+3152C>A
NM_019098.4:c.*267C>A	NP_061971.3:n.*267C>A
XM_011517138.1:c.*267C>A	XP_011515440.1:n.*267C>A
XM_011517138.2:c.*267C>A	XP_011515440.1:n.*267C>A
NM_019098.5:c.*267C>A MANE Select	NP_061971.3:n.*267C>A