Canonical Allele Identifier: CA2794640

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 866660
• ClinVar RCV Id: RCV001074863 ; RCV001206651
• dbSNP Id: rs761619791
• ExAC: 4:656020 C / T
• gnomAD v2: 4-656020-C-T
• gnomAD v3: 4-662231-C-T
• gnomAD v4: 4-662231-C-T
• MyVariant Identifiers: chr4:g.656020C>T (hg19) ; chr4:g.662231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662231C>T , CM000666.2:g.662231C>T	GRCh38
NC_000004.11:g.656020C>T , CM000666.1:g.656020C>T	GRCh37
NC_000004.10:g.646020C>T	NCBI36
NG_009839.1:g.41658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1712C>T MANE Select	ENSP00000420295.1:p.Thr571Met
ENST00000255622.10:c.1712C>T	ENSP00000255622.6:p.Thr571Met
ENST00000429163.6:c.875C>T	ENSP00000406334.2:p.Thr292Met
ENST00000496514.5:c.1712C>T	ENSP00000420295.1:p.Thr571Met
NM_000283.3:c.1712C>T	NP_000274.2:p.Thr571Met
NM_001145291.1:c.1712C>T	NP_001138763.1:p.Thr571Met
NM_001145292.1:c.875C>T	NP_001138764.1:p.Thr292Met
XM_011513473.1:c.1931C>T	XP_011511775.1:p.Thr644Met
XM_011513474.1:c.1931C>T	XP_011511776.1:p.Thr644Met
XM_011513475.1:c.1712C>T	XP_011511777.1:p.Thr571Met
XM_011513476.1:c.1931C>T	XP_011511778.1:p.Thr644Met
XM_011513477.1:c.917C>T	XP_011511779.1:p.Thr306Met
XM_011513478.1:c.641C>T	XP_011511780.1:p.Thr214Met
XR_925029.1:n.312G>A
NM_001350154.1:c.875C>T	NP_001337083.1:p.Thr292Met
NM_001350155.1:c.557C>T	NP_001337084.1:p.Thr186Met
XM_011513473.3:c.1931C>T	XP_011511775.1:p.Thr644Met
XM_011513474.3:c.1931C>T	XP_011511776.1:p.Thr644Met
XM_011513475.2:c.1712C>T	XP_011511777.1:p.Thr571Met
XM_011513476.3:c.1931C>T	XP_011511778.1:p.Thr644Met
XM_011513478.2:c.641C>T	XP_011511780.1:p.Thr214Met
XM_017008284.1:c.875C>T	XP_016863773.1:p.Thr292Met
XM_017008285.1:c.875C>T	XP_016863774.1:p.Thr292Met
XM_017008286.1:c.875C>T	XP_016863775.1:p.Thr292Met
NM_001350154.2:c.875C>T	NP_001337083.1:p.Thr292Met
NM_001350155.2:c.557C>T	NP_001337084.1:p.Thr186Met
NM_000283.4:c.1712C>T MANE Select	NP_000274.3:p.Thr571Met
NM_001145291.2:c.1712C>T	NP_001138763.2:p.Thr571Met
NM_001145292.2:c.875C>T	NP_001138764.2:p.Thr292Met
NM_001350154.3:c.875C>T	NP_001337083.1:p.Thr292Met
NM_001350155.3:c.557C>T	NP_001337084.1:p.Thr186Met
NM_001379246.1:c.875C>T	NP_001366175.1:p.Thr292Met
NM_001379247.1:c.875C>T	NP_001366176.1:p.Thr292Met