Canonical Allele Identifier: CA462114300

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1109783
• ClinVar RCV Id: RCV001435746
• dbSNP Id: rs1179312391
• gnomAD v4: 8-86576059-A-G
• MyVariant Identifiers: chr8:g.87588287A>G (hg19) ; chr8:g.86576059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576059A>G , CM000670.2:g.86576059A>G	GRCh38
NC_000008.10:g.87588287A>G , CM000670.1:g.87588287A>G	GRCh37
NC_000008.9:g.87657403A>G	NCBI36
NG_016980.1:g.172617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2175T>C MANE Select	ENSP00000316605.5:p.Asp725=
ENST00000681546.1:n.1995T>C
ENST00000681746.1:c.*586T>C	ENSP00000505959.1:n.*586T>C
ENST00000320005.5:c.2175T>C	ENSP00000316605.5:p.Asp725=
ENST00000517327.5:c.276+2630T>C	ENSP00000428329.1:n.276+2630T>C
NM_019098.4:c.2175T>C	NP_061971.3:p.Asp725=
XM_011517138.1:c.1761T>C	XP_011515440.1:p.Asp587=
XM_011517138.2:c.1761T>C	XP_011515440.1:p.Asp587=
NM_019098.5:c.2175T>C MANE Select	NP_061971.3:p.Asp725=