Canonical Allele Identifier: CA179904

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 166903
• ClinVar RCV Id: RCV000153053 ; RCV000287491 ; RCV000381879 ; RCV001275880 ; RCV001522471
• dbSNP Id: rs3735970
• ExAC: 8:87588248 T / C
• gnomAD v2: 8-87588248-T-C
• gnomAD v3: 8-86576020-T-C
• gnomAD v4: 8-86576020-T-C
• MyVariant Identifiers: chr8:g.87588248T>C (hg19) ; chr8:g.86576020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576020T>C , CM000670.2:g.86576020T>C	GRCh38
NC_000008.10:g.87588248T>C , CM000670.1:g.87588248T>C	GRCh37
NC_000008.9:g.87657364T>C	NCBI36
NG_016980.1:g.172656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2214A>G MANE Select	ENSP00000316605.5:p.Glu738=
ENST00000681546.1:n.2034A>G
ENST00000681746.1:c.*625A>G	ENSP00000505959.1:n.*625A>G
ENST00000320005.5:c.2214A>G	ENSP00000316605.5:p.Glu738=
ENST00000517327.5:c.276+2669A>G	ENSP00000428329.1:n.276+2669A>G
NM_019098.4:c.2214A>G	NP_061971.3:p.Glu738=
XM_011517138.1:c.1800A>G	XP_011515440.1:p.Glu600=
XM_011517138.2:c.1800A>G	XP_011515440.1:p.Glu600=
NM_019098.5:c.2214A>G MANE Select	NP_061971.3:p.Glu738=