Canonical Allele Identifier: CA856374225

Gene: CNGB3

Linked Data

• dbSNP Id: rs1289093018
• gnomAD v3: 8-86574177-A-C
• gnomAD v4: 8-86574177-A-C
• MyVariant Identifiers: chr8:g.87586405A>C (hg19) ; chr8:g.86574177A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574177A>C , CM000670.2:g.86574177A>C	GRCh38
NC_000008.10:g.87586405A>C , CM000670.1:g.87586405A>C	GRCh37
NC_000008.9:g.87655521A>C	NCBI36
NG_016980.1:g.174499T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681746.1:c.*2468T>G	ENSP00000505959.1:n.*2468T>G
ENST00000320005.5:c.*1627T>G	ENSP00000316605.5:n.*1627T>G
ENST00000517327.5:c.276+4512T>G	ENSP00000428329.1:n.276+4512T>G
NM_019098.4:c.*1627T>G	NP_061971.3:n.*1627T>G
XM_011517138.1:c.*1627T>G	XP_011515440.1:n.*1627T>G
XM_011517138.2:c.*1627T>G	XP_011515440.1:n.*1627T>G