Canonical Allele Identifier: CA340372

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 5227
• ClinVar RCV Id: RCV000005538 ; RCV000378015 ; RCV000497748 ; RCV000881356 ; RCV001276134
• dbSNP Id: rs35365413
• ExAC: 8:87641222 A / C
• gnomAD v2: 8-87641222-A-C
• gnomAD v3: 8-86628994-A-C
• gnomAD v4: 8-86628994-A-C
• MyVariant Identifiers: chr8:g.87641222A>C (hg19) ; chr8:g.86628994A>C (hg38)
• PubMed: PMID:15712225 ; PMID:23891399 ; PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86628994A>C , CM000670.2:g.86628994A>C	GRCh38
NC_000008.10:g.87641222A>C , CM000670.1:g.87641222A>C	GRCh37
NC_000008.9:g.87710338A>C	NCBI36
NG_016980.1:g.119682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1405T>G MANE Select	ENSP00000316605.5:p.Tyr469Asp
ENST00000681546.1:n.1225T>G
ENST00000681746.1:c.1405T>G	ENSP00000505959.1:p.Tyr469Asp
ENST00000320005.5:c.1405T>G	ENSP00000316605.5:p.Tyr469Asp
NM_019098.4:c.1405T>G	NP_061971.3:p.Tyr469Asp
XM_011517138.1:c.991T>G	XP_011515440.1:p.Tyr331Asp
XM_011517138.2:c.991T>G	XP_011515440.1:p.Tyr331Asp
NM_019098.5:c.1405T>G MANE Select	NP_061971.3:p.Tyr469Asp