Canonical Allele Identifier: CA4800389

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 991603
• ClinVar RCV Id: RCV001279843 ; RCV001343561
• dbSNP Id: rs752150266
• ExAC: 8:87683176 T / A
• gnomAD v2: 8-87683176-T-A
• gnomAD v3: 8-86670948-T-A
• gnomAD v4: 8-86670948-T-A
• MyVariant Identifiers: chr8:g.87683176T>A (hg19) ; chr8:g.86670948T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670948T>A , CM000670.2:g.86670948T>A	GRCh38
NC_000008.10:g.87683176T>A , CM000670.1:g.87683176T>A	GRCh37
NC_000008.9:g.87752292T>A	NCBI36
NG_016980.1:g.77728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.489A>T MANE Select	ENSP00000316605.5:p.Gln163His
ENST00000680314.1:n.250A>T
ENST00000681746.1:c.489A>T	ENSP00000505959.1:p.Gln163His
ENST00000320005.5:c.489A>T	ENSP00000316605.5:p.Gln163His
NM_019098.4:c.489A>T	NP_061971.3:p.Gln163His
XM_011517138.1:c.75A>T	XP_011515440.1:p.Gln25His
XM_011517138.2:c.75A>T	XP_011515440.1:p.Gln25His
NM_019098.5:c.489A>T MANE Select	NP_061971.3:p.Gln163His