Canonical Allele Identifier: CA371450093

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 908890
• ClinVar RCV Id: RCV001159646 ; RCV001159645
• dbSNP Id: rs1823848358
• gnomAD v3: 8-86670977-C-A
• gnomAD v4: 8-86670977-C-A
• MyVariant Identifiers: chr8:g.87683205C>A (hg19) ; chr8:g.86670977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670977C>A , CM000670.2:g.86670977C>A	GRCh38
NC_000008.10:g.87683205C>A , CM000670.1:g.87683205C>A	GRCh37
NC_000008.9:g.87752321C>A	NCBI36
NG_016980.1:g.77699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.460G>T MANE Select	ENSP00000316605.5:p.Asp154Tyr
ENST00000680314.1:n.221G>T
ENST00000681746.1:c.460G>T	ENSP00000505959.1:p.Asp154Tyr
ENST00000320005.5:c.460G>T	ENSP00000316605.5:p.Asp154Tyr
NM_019098.4:c.460G>T	NP_061971.3:p.Asp154Tyr
XM_011517138.1:c.46G>T	XP_011515440.1:p.Asp16Tyr
XM_011517138.2:c.46G>T	XP_011515440.1:p.Asp16Tyr
NM_019098.5:c.460G>T MANE Select	NP_061971.3:p.Asp154Tyr