Canonical Allele Identifier: CA4799885

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 972227
• ClinVar RCV Id: RCV001248206 ; RCV001835326
• dbSNP Id: rs201093395
• ExAC: 8:87591433 G / A
• gnomAD v2: 8-87591433-G-A
• gnomAD v3: 8-86579205-G-A
• gnomAD v4: 8-86579205-G-A
• COSMIC: COSM751559
• MyVariant Identifiers: chr8:g.87591433G>A (hg19) ; chr8:g.86579205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86579205G>A , CM000670.2:g.86579205G>A	GRCh38
NC_000008.10:g.87591433G>A , CM000670.1:g.87591433G>A	GRCh37
NC_000008.9:g.87660549G>A	NCBI36
NG_016980.1:g.169471C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1829C>T MANE Select	ENSP00000316605.5:p.Ala610Val
ENST00000681546.1:n.1649C>T
ENST00000681746.1:c.*240C>T	ENSP00000505959.1:n.*240C>T
ENST00000320005.5:c.1829C>T	ENSP00000316605.5:p.Ala610Val
ENST00000517327.5:c.2C>T	ENSP00000428329.1:p.Ala1Val
NM_019098.4:c.1829C>T	NP_061971.3:p.Ala610Val
XM_011517138.1:c.1415C>T	XP_011515440.1:p.Ala472Val
XM_011517138.2:c.1415C>T	XP_011515440.1:p.Ala472Val
NM_019098.5:c.1829C>T MANE Select	NP_061971.3:p.Ala610Val