Canonical Allele Identifier: CA4799763

Gene: CNGB3

Linked Data

• dbSNP Id: rs746764627
• ExAC: 8:87588204 C / G
• gnomAD v2: 8-87588204-C-G
• gnomAD v4: 8-86575976-C-G
• MyVariant Identifiers: chr8:g.87588204C>G (hg19) ; chr8:g.86575976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575976C>G , CM000670.2:g.86575976C>G	GRCh38
NC_000008.10:g.87588204C>G , CM000670.1:g.87588204C>G	GRCh37
NC_000008.9:g.87657320C>G	NCBI36
NG_016980.1:g.172700G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.2258G>C MANE Select	ENSP00000316605.5:p.Arg753Thr
ENST00000681546.1:n.2078G>C
ENST00000681746.1:c.*669G>C	ENSP00000505959.1:n.*669G>C
ENST00000320005.5:c.2258G>C	ENSP00000316605.5:p.Arg753Thr
ENST00000517327.5:c.276+2713G>C	ENSP00000428329.1:n.276+2713G>C
NM_019098.4:c.2258G>C	NP_061971.3:p.Arg753Thr
XM_011517138.1:c.1844G>C	XP_011515440.1:p.Arg615Thr
XM_011517138.2:c.1844G>C	XP_011515440.1:p.Arg615Thr
NM_019098.5:c.2258G>C MANE Select	NP_061971.3:p.Arg753Thr