Canonical Allele Identifier: CA582905901

Gene: CNGB3

Linked Data

• dbSNP Id: rs1409339108
• gnomAD v2: 8-87586591-A-G
• gnomAD v3: 8-86574363-A-G
• gnomAD v4: 8-86574363-A-G
• MyVariant Identifiers: chr8:g.87586591A>G (hg19) ; chr8:g.86574363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574363A>G , CM000670.2:g.86574363A>G	GRCh38
NC_000008.10:g.87586591A>G , CM000670.1:g.87586591A>G	GRCh37
NC_000008.9:g.87655707A>G	NCBI36
NG_016980.1:g.174313T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1441T>C MANE Select	ENSP00000316605.5:n.*1441T>C
ENST00000681546.1:n.3691T>C
ENST00000681746.1:c.*2282T>C	ENSP00000505959.1:n.*2282T>C
ENST00000320005.5:c.*1441T>C	ENSP00000316605.5:n.*1441T>C
ENST00000517327.5:c.276+4326T>C	ENSP00000428329.1:n.276+4326T>C
NM_019098.4:c.*1441T>C	NP_061971.3:n.*1441T>C
XM_011517138.1:c.*1441T>C	XP_011515440.1:n.*1441T>C
XM_011517138.2:c.*1441T>C	XP_011515440.1:n.*1441T>C
NM_019098.5:c.*1441T>C MANE Select	NP_061971.3:n.*1441T>C