Canonical Allele Identifier: CA438053510

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 1669164
• ClinVar RCV Id: RCV002198311
• dbSNP Id: rs1226622625
• gnomAD v2: 4-656000-C-T
• gnomAD v4: 4-662211-C-T
• MyVariant Identifiers: chr4:g.656000C>T (hg19) ; chr4:g.662211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662211C>T , CM000666.2:g.662211C>T	GRCh38
NC_000004.11:g.656000C>T , CM000666.1:g.656000C>T	GRCh37
NC_000004.10:g.646000C>T	NCBI36
NG_009839.1:g.41638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1692C>T MANE Select	ENSP00000420295.1:p.Asn564=
ENST00000255622.10:c.1692C>T	ENSP00000255622.6:p.Asn564=
ENST00000429163.6:c.855C>T	ENSP00000406334.2:p.Asn285=
ENST00000496514.5:c.1692C>T	ENSP00000420295.1:p.Asn564=
NM_000283.3:c.1692C>T	NP_000274.2:p.Asn564=
NM_001145291.1:c.1692C>T	NP_001138763.1:p.Asn564=
NM_001145292.1:c.855C>T	NP_001138764.1:p.Asn285=
XM_011513473.1:c.1911C>T	XP_011511775.1:p.Asn637=
XM_011513474.1:c.1911C>T	XP_011511776.1:p.Asn637=
XM_011513475.1:c.1692C>T	XP_011511777.1:p.Asn564=
XM_011513476.1:c.1911C>T	XP_011511778.1:p.Asn637=
XM_011513477.1:c.897C>T	XP_011511779.1:p.Asn299=
XM_011513478.1:c.621C>T	XP_011511780.1:p.Asn207=
XR_925029.1:n.332G>A
NM_001350154.1:c.855C>T	NP_001337083.1:p.Asn285=
NM_001350155.1:c.537C>T	NP_001337084.1:p.Asn179=
XM_011513473.3:c.1911C>T	XP_011511775.1:p.Asn637=
XM_011513474.3:c.1911C>T	XP_011511776.1:p.Asn637=
XM_011513475.2:c.1692C>T	XP_011511777.1:p.Asn564=
XM_011513476.3:c.1911C>T	XP_011511778.1:p.Asn637=
XM_011513478.2:c.621C>T	XP_011511780.1:p.Asn207=
XM_017008284.1:c.855C>T	XP_016863773.1:p.Asn285=
XM_017008285.1:c.855C>T	XP_016863774.1:p.Asn285=
XM_017008286.1:c.855C>T	XP_016863775.1:p.Asn285=
NM_001350154.2:c.855C>T	NP_001337083.1:p.Asn285=
NM_001350155.2:c.537C>T	NP_001337084.1:p.Asn179=
NM_000283.4:c.1692C>T MANE Select	NP_000274.3:p.Asn564=
NM_001145291.2:c.1692C>T	NP_001138763.2:p.Asn564=
NM_001145292.2:c.855C>T	NP_001138764.2:p.Asn285=
NM_001350154.3:c.855C>T	NP_001337083.1:p.Asn285=
NM_001350155.3:c.537C>T	NP_001337084.1:p.Asn179=
NM_001379246.1:c.855C>T	NP_001366175.1:p.Asn285=
NM_001379247.1:c.855C>T	NP_001366176.1:p.Asn285=