Canonical Allele Identifier: CA2794585

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349381
• ClinVar RCV Id: RCV000294425 ; RCV000349329 ; RCV001240311 ; RCV003168538
• dbSNP Id: rs144664551
• ExAC: 4:654380 G / A
• gnomAD v2: 4-654380-G-A
• gnomAD v3: 4-660591-G-A
• gnomAD v4: 4-660591-G-A
• COSMIC: COSM1540548
• MyVariant Identifiers: chr4:g.654380G>A (hg19) ; chr4:g.660591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660591G>A , CM000666.2:g.660591G>A	GRCh38
NC_000004.11:g.654380G>A , CM000666.1:g.654380G>A	GRCh37
NC_000004.10:g.644380G>A	NCBI36
NG_009839.1:g.40018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1592G>A MANE Select	ENSP00000420295.1:p.Arg531Gln
ENST00000255622.10:c.1592G>A	ENSP00000255622.6:p.Arg531Gln
ENST00000429163.6:c.755G>A	ENSP00000406334.2:p.Arg252Gln
ENST00000496514.5:c.1592G>A	ENSP00000420295.1:p.Arg531Gln
NM_000283.3:c.1592G>A	NP_000274.2:p.Arg531Gln
NM_001145291.1:c.1592G>A	NP_001138763.1:p.Arg531Gln
NM_001145292.1:c.755G>A	NP_001138764.1:p.Arg252Gln
XM_011513473.1:c.1811G>A	XP_011511775.1:p.Arg604Gln
XM_011513474.1:c.1811G>A	XP_011511776.1:p.Arg604Gln
XM_011513475.1:c.1592G>A	XP_011511777.1:p.Arg531Gln
XM_011513476.1:c.1811G>A	XP_011511778.1:p.Arg604Gln
XM_011513477.1:c.797G>A	XP_011511779.1:p.Arg266Gln
XM_011513478.1:c.521G>A	XP_011511780.1:p.Arg174Gln
NM_001350154.1:c.755G>A	NP_001337083.1:p.Arg252Gln
NM_001350155.1:c.437G>A	NP_001337084.1:p.Arg146Gln
XM_011513473.3:c.1811G>A	XP_011511775.1:p.Arg604Gln
XM_011513474.3:c.1811G>A	XP_011511776.1:p.Arg604Gln
XM_011513475.2:c.1592G>A	XP_011511777.1:p.Arg531Gln
XM_011513476.3:c.1811G>A	XP_011511778.1:p.Arg604Gln
XM_011513478.2:c.521G>A	XP_011511780.1:p.Arg174Gln
XM_017008284.1:c.755G>A	XP_016863773.1:p.Arg252Gln
XM_017008285.1:c.755G>A	XP_016863774.1:p.Arg252Gln
XM_017008286.1:c.755G>A	XP_016863775.1:p.Arg252Gln
NM_001350154.2:c.755G>A	NP_001337083.1:p.Arg252Gln
NM_001350155.2:c.437G>A	NP_001337084.1:p.Arg146Gln
NM_000283.4:c.1592G>A MANE Select	NP_000274.3:p.Arg531Gln
NM_001145291.2:c.1592G>A	NP_001138763.2:p.Arg531Gln
NM_001145292.2:c.755G>A	NP_001138764.2:p.Arg252Gln
NM_001350154.3:c.755G>A	NP_001337083.1:p.Arg252Gln
NM_001350155.3:c.437G>A	NP_001337084.1:p.Arg146Gln
NM_001379246.1:c.755G>A	NP_001366175.1:p.Arg252Gln
NM_001379247.1:c.755G>A	NP_001366176.1:p.Arg252Gln