Canonical Allele Identifier: CA4799752

Gene: CNGB3

Linked Data

• dbSNP Id: rs762547089
• ExAC: 8:87588146 C / A
• gnomAD v2: 8-87588146-C-A
• gnomAD v3: 8-86575918-C-A
• gnomAD v4: 8-86575918-C-A
• MyVariant Identifiers: chr8:g.87588146C>A (hg19) ; chr8:g.87588146_87588149delinsACTT (hg19) ; chr8:g.86575918C>A (hg38) ; chr8:g.86575918_86575921delinsACTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575918C>A , CM000670.2:g.86575918C>A	GRCh38
NC_000008.10:g.87588146C>A , CM000670.1:g.87588146C>A	GRCh37
NC_000008.9:g.87657262C>A	NCBI36
NG_016980.1:g.172758G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2316G>T MANE Select	ENSP00000316605.5:p.Arg772Ser
ENST00000681546.1:n.2136G>T
ENST00000681746.1:c.*727G>T	ENSP00000505959.1:n.*727G>T
ENST00000320005.5:c.2316G>T	ENSP00000316605.5:p.Arg772Ser
ENST00000517327.5:c.276+2771G>T	ENSP00000428329.1:n.276+2771G>T
NM_019098.4:c.2316G>T	NP_061971.3:p.Arg772Ser
XM_011517138.1:c.1902G>T	XP_011515440.1:p.Arg634Ser
XM_011517138.2:c.1902G>T	XP_011515440.1:p.Arg634Ser
NM_019098.5:c.2316G>T MANE Select	NP_061971.3:p.Arg772Ser