Canonical Allele Identifier: CA462114099

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1614962
• ClinVar RCV Id: RCV002078999
• dbSNP Id: rs1585940925
• gnomAD v4: 8-86575843-C-T
• MyVariant Identifiers: chr8:g.87588071C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575843C>T , CM000670.2:g.86575843C>T	GRCh38
NC_000008.10:g.87588071C>T , CM000670.1:g.87588071C>T	GRCh37
NC_000008.9:g.87657187C>T	NCBI36
NG_016980.1:g.172833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2391G>A MANE Select	ENSP00000316605.5:p.Glu797=
ENST00000681546.1:n.2211G>A
ENST00000681746.1:c.*802G>A	ENSP00000505959.1:n.*802G>A
ENST00000320005.5:c.2391G>A	ENSP00000316605.5:p.Glu797=
ENST00000517327.5:c.276+2846G>A	ENSP00000428329.1:n.276+2846G>A
NM_019098.4:c.2391G>A	NP_061971.3:p.Glu797=
XM_011517138.1:c.1977G>A	XP_011515440.1:p.Glu659=
XM_011517138.2:c.1977G>A	XP_011515440.1:p.Glu659=
NM_019098.5:c.2391G>A MANE Select	NP_061971.3:p.Glu797=