Canonical Allele Identifier: CA4799721

Gene: CNGB3

Linked Data

• dbSNP Id: rs777666964
• ExAC: 8:87588012 A / G
• gnomAD v2: 8-87588012-A-G
• gnomAD v4: 8-86575784-A-G
• MyVariant Identifiers: chr8:g.87588012A>G (hg19) ; chr8:g.86575784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575784A>G , CM000670.2:g.86575784A>G	GRCh38
NC_000008.10:g.87588012A>G , CM000670.1:g.87588012A>G	GRCh37
NC_000008.9:g.87657128A>G	NCBI36
NG_016980.1:g.172892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*20T>C MANE Select	ENSP00000316605.5:n.*20T>C
ENST00000681546.1:n.2270T>C
ENST00000681746.1:c.*861T>C	ENSP00000505959.1:n.*861T>C
ENST00000320005.5:c.*20T>C	ENSP00000316605.5:n.*20T>C
ENST00000517327.5:c.276+2905T>C	ENSP00000428329.1:n.276+2905T>C
NM_019098.4:c.*20T>C	NP_061971.3:n.*20T>C
XM_011517138.1:c.*20T>C	XP_011515440.1:n.*20T>C
XM_011517138.2:c.*20T>C	XP_011515440.1:n.*20T>C
NM_019098.5:c.*20T>C MANE Select	NP_061971.3:n.*20T>C