Canonical Allele Identifier: CA10631611

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 363849
• ClinVar RCV Id: RCV000264854 ; RCV000324660
• dbSNP Id: rs886063155
• gnomAD v3: 8-86574436-A-G
• gnomAD v4: 8-86574436-A-G
• MyVariant Identifiers: chr8:g.87586664A>G (hg19) ; chr8:g.86574436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574436A>G , CM000670.2:g.86574436A>G	GRCh38
NC_000008.10:g.87586664A>G , CM000670.1:g.87586664A>G	GRCh37
NC_000008.9:g.87655780A>G	NCBI36
NG_016980.1:g.174240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1368T>C MANE Select	ENSP00000316605.5:n.*1368T>C
ENST00000681546.1:n.3618T>C
ENST00000681746.1:c.*2209T>C	ENSP00000505959.1:n.*2209T>C
ENST00000320005.5:c.*1368T>C	ENSP00000316605.5:n.*1368T>C
ENST00000517327.5:c.276+4253T>C	ENSP00000428329.1:n.276+4253T>C
NM_019098.4:c.*1368T>C	NP_061971.3:n.*1368T>C
XM_011517138.1:c.*1368T>C	XP_011515440.1:n.*1368T>C
XM_011517138.2:c.*1368T>C	XP_011515440.1:n.*1368T>C
NM_019098.5:c.*1368T>C MANE Select	NP_061971.3:n.*1368T>C