Canonical Allele Identifier: CA371446276

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1910485
• ClinVar RCV Id: RCV002587759
• dbSNP Id: rs2131529349
• gnomAD v4: 8-86575959-T-G
• MyVariant Identifiers: chr8:g.87588187T>G (hg19) ; chr8:g.86575959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575959T>G , CM000670.2:g.86575959T>G	GRCh38
NC_000008.10:g.87588187T>G , CM000670.1:g.87588187T>G	GRCh37
NC_000008.9:g.87657303T>G	NCBI36
NG_016980.1:g.172717A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2275A>C MANE Select	ENSP00000316605.5:p.Ser759Arg
ENST00000681546.1:n.2095A>C
ENST00000681746.1:c.*686A>C	ENSP00000505959.1:n.*686A>C
ENST00000320005.5:c.2275A>C	ENSP00000316605.5:p.Ser759Arg
ENST00000517327.5:c.276+2730A>C	ENSP00000428329.1:n.276+2730A>C
NM_019098.4:c.2275A>C	NP_061971.3:p.Ser759Arg
XM_011517138.1:c.1861A>C	XP_011515440.1:p.Ser621Arg
XM_011517138.2:c.1861A>C	XP_011515440.1:p.Ser621Arg
NM_019098.5:c.2275A>C MANE Select	NP_061971.3:p.Ser759Arg