Canonical Allele Identifier: CA856375065

Gene: CNGB3

Linked Data

• dbSNP Id: rs1467861917
• gnomAD v3: 8-86575492-G-T
• gnomAD v4: 8-86575492-G-T
• MyVariant Identifiers: chr8:g.87587720G>T (hg19) ; chr8:g.86575492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575492G>T , CM000670.2:g.86575492G>T	GRCh38
NC_000008.10:g.87587720G>T , CM000670.1:g.87587720G>T	GRCh37
NC_000008.9:g.87656836G>T	NCBI36
NG_016980.1:g.173184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*312C>A MANE Select	ENSP00000316605.5:n.*312C>A
ENST00000681546.1:n.2562C>A
ENST00000681746.1:c.*1153C>A	ENSP00000505959.1:n.*1153C>A
ENST00000320005.5:c.*312C>A	ENSP00000316605.5:n.*312C>A
ENST00000517327.5:c.276+3197C>A	ENSP00000428329.1:n.276+3197C>A
NM_019098.4:c.*312C>A	NP_061971.3:n.*312C>A
XM_011517138.1:c.*312C>A	XP_011515440.1:n.*312C>A
XM_011517138.2:c.*312C>A	XP_011515440.1:n.*312C>A
NM_019098.5:c.*312C>A MANE Select	NP_061971.3:n.*312C>A