Canonical Allele Identifier: CA583366055

Gene: CNGB3

Linked Data

• dbSNP Id: rs937844558
• gnomAD v2: 8-87587781-T-C
• gnomAD v3: 8-86575553-T-C
• gnomAD v4: 8-86575553-T-C
• MyVariant Identifiers: chr8:g.87587781T>C (hg19) ; chr8:g.86575553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575553T>C , CM000670.2:g.86575553T>C	GRCh38
NC_000008.10:g.87587781T>C , CM000670.1:g.87587781T>C	GRCh37
NC_000008.9:g.87656897T>C	NCBI36
NG_016980.1:g.173123A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*251A>G MANE Select	ENSP00000316605.5:n.*251A>G
ENST00000681546.1:n.2501A>G
ENST00000681746.1:c.*1092A>G	ENSP00000505959.1:n.*1092A>G
ENST00000320005.5:c.*251A>G	ENSP00000316605.5:n.*251A>G
ENST00000517327.5:c.276+3136A>G	ENSP00000428329.1:n.276+3136A>G
NM_019098.4:c.*251A>G	NP_061971.3:n.*251A>G
XM_011517138.1:c.*251A>G	XP_011515440.1:n.*251A>G
XM_011517138.2:c.*251A>G	XP_011515440.1:n.*251A>G
NM_019098.5:c.*251A>G MANE Select	NP_061971.3:n.*251A>G