Canonical Allele Identifier: CA180328134

Gene: CNGB3

Linked Data

• dbSNP Id: rs992178757
• gnomAD v2: 8-87586432-C-T
• gnomAD v3: 8-86574204-C-T
• gnomAD v4: 8-86574204-C-T
• MyVariant Identifiers: chr8:g.87586432C>T (hg19) ; chr8:g.86574204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574204C>T , CM000670.2:g.86574204C>T	GRCh38
NC_000008.10:g.87586432C>T , CM000670.1:g.87586432C>T	GRCh37
NC_000008.9:g.87655548C>T	NCBI36
NG_016980.1:g.174472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*1600G>A MANE Select	ENSP00000316605.5:n.*1600G>A
ENST00000681746.1:c.*2441G>A	ENSP00000505959.1:n.*2441G>A
ENST00000320005.5:c.*1600G>A	ENSP00000316605.5:n.*1600G>A
ENST00000517327.5:c.276+4485G>A	ENSP00000428329.1:n.276+4485G>A
NM_019098.4:c.*1600G>A	NP_061971.3:n.*1600G>A
XM_011517138.1:c.*1600G>A	XP_011515440.1:n.*1600G>A
XM_011517138.2:c.*1600G>A	XP_011515440.1:n.*1600G>A
NM_019098.5:c.*1600G>A MANE Select	NP_061971.3:n.*1600G>A