Canonical Allele Identifier: CA4799727

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 908712
• ClinVar RCV Id: RCV001159339 ; RCV001159338 ; RCV002558411
• dbSNP Id: rs375288585
• ExAC: 8:87588043 C / T
• gnomAD v2: 8-87588043-C-T
• gnomAD v3: 8-86575815-C-T
• gnomAD v4: 8-86575815-C-T
• COSMIC: COSM4673090
• MyVariant Identifiers: chr8:g.87588043C>T (hg19) ; chr8:g.86575815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575815C>T , CM000670.2:g.86575815C>T	GRCh38
NC_000008.10:g.87588043C>T , CM000670.1:g.87588043C>T	GRCh37
NC_000008.9:g.87657159C>T	NCBI36
NG_016980.1:g.172861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2419G>A MANE Select	ENSP00000316605.5:p.Ala807Thr
ENST00000681546.1:n.2239G>A
ENST00000681746.1:c.*830G>A	ENSP00000505959.1:n.*830G>A
ENST00000320005.5:c.2419G>A	ENSP00000316605.5:p.Ala807Thr
ENST00000517327.5:c.276+2874G>A	ENSP00000428329.1:n.276+2874G>A
NM_019098.4:c.2419G>A	NP_061971.3:p.Ala807Thr
XM_011517138.1:c.2005G>A	XP_011515440.1:p.Ala669Thr
XM_011517138.2:c.2005G>A	XP_011515440.1:p.Ala669Thr
NM_019098.5:c.2419G>A MANE Select	NP_061971.3:p.Ala807Thr