Canonical Allele Identifier: CA233766

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 166898
• ClinVar RCV Id: RCV000245417 ; RCV000885622 ; RCV001160702 ; RCV001160703 ; RCV001276120
• dbSNP Id: rs186448979
• ExAC: 8:87588047 T / G
• gnomAD v2: 8-87588047-T-G
• gnomAD v3: 8-86575819-T-G
• gnomAD v4: 8-86575819-T-G
• MyVariant Identifiers: chr8:g.87588047T>G (hg19) ; chr8:g.86575819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575819T>G , CM000670.2:g.86575819T>G	GRCh38
NC_000008.10:g.87588047T>G , CM000670.1:g.87588047T>G	GRCh37
NC_000008.9:g.87657163T>G	NCBI36
NG_016980.1:g.172857A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2415A>C MANE Select	ENSP00000316605.5:p.Glu805Asp
ENST00000681546.1:n.2235A>C
ENST00000681746.1:c.*826A>C	ENSP00000505959.1:n.*826A>C
ENST00000320005.5:c.2415A>C	ENSP00000316605.5:p.Glu805Asp
ENST00000517327.5:c.276+2870A>C	ENSP00000428329.1:n.276+2870A>C
NM_019098.4:c.2415A>C	NP_061971.3:p.Glu805Asp
XM_011517138.1:c.2001A>C	XP_011515440.1:p.Glu667Asp
XM_011517138.2:c.2001A>C	XP_011515440.1:p.Glu667Asp
NM_019098.5:c.2415A>C MANE Select	NP_061971.3:p.Glu805Asp