Canonical Allele Identifier: CA2794909

Gene: PDE6B

Linked Data

• dbSNP Id: rs754756020
• ExAC: 4:658687 C / T
• gnomAD v2: 4-658687-C-T
• gnomAD v4: 4-664898-C-T
• MyVariant Identifiers: chr4:g.658687C>T (hg19) ; chr4:g.664898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664898C>T , CM000666.2:g.664898C>T	GRCh38
NC_000004.11:g.658687C>T , CM000666.1:g.658687C>T	GRCh37
NC_000004.10:g.648687C>T	NCBI36
NG_009839.1:g.44325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2147C>T MANE Select	ENSP00000420295.1:p.Ala716Val
ENST00000255622.10:c.2147C>T	ENSP00000255622.6:p.Ala716Val
ENST00000429163.6:c.1310C>T	ENSP00000406334.2:p.Ala437Val
ENST00000460119.1:n.517C>T
ENST00000471824.6:c.227C>T	ENSP00000417852.2:p.Ala76Val
ENST00000496514.5:c.2147C>T	ENSP00000420295.1:p.Ala716Val
NM_000283.3:c.2147C>T	NP_000274.2:p.Ala716Val
NM_001145291.1:c.2147C>T	NP_001138763.1:p.Ala716Val
NM_001145292.1:c.1310C>T	NP_001138764.1:p.Ala437Val
XM_011513473.1:c.2366C>T	XP_011511775.1:p.Ala789Val
XM_011513474.1:c.2366C>T	XP_011511776.1:p.Ala789Val
XM_011513475.1:c.2147C>T	XP_011511777.1:p.Ala716Val
XM_011513476.1:c.2366C>T	XP_011511778.1:p.Ala789Val
XM_011513477.1:c.1352C>T	XP_011511779.1:p.Ala451Val
XM_011513478.1:c.1076C>T	XP_011511780.1:p.Ala359Val
NM_001350154.1:c.1310C>T	NP_001337083.1:p.Ala437Val
NM_001350155.1:c.992C>T	NP_001337084.1:p.Ala331Val
XM_011513473.3:c.2366C>T	XP_011511775.1:p.Ala789Val
XM_011513474.3:c.2366C>T	XP_011511776.1:p.Ala789Val
XM_011513475.2:c.2147C>T	XP_011511777.1:p.Ala716Val
XM_011513476.3:c.2366C>T	XP_011511778.1:p.Ala789Val
XM_011513478.2:c.1076C>T	XP_011511780.1:p.Ala359Val
XM_017008284.1:c.1310C>T	XP_016863773.1:p.Ala437Val
XM_017008285.1:c.1310C>T	XP_016863774.1:p.Ala437Val
XM_017008286.1:c.1310C>T	XP_016863775.1:p.Ala437Val
NM_001350154.2:c.1310C>T	NP_001337083.1:p.Ala437Val
NM_001350155.2:c.992C>T	NP_001337084.1:p.Ala331Val
NM_000283.4:c.2147C>T MANE Select	NP_000274.3:p.Ala716Val
NM_001145291.2:c.2147C>T	NP_001138763.2:p.Ala716Val
NM_001145292.2:c.1310C>T	NP_001138764.2:p.Ala437Val
NM_001350154.3:c.1310C>T	NP_001337083.1:p.Ala437Val
NM_001350155.3:c.992C>T	NP_001337084.1:p.Ala331Val
NM_001379246.1:c.1310C>T	NP_001366175.1:p.Ala437Val
NM_001379247.1:c.1310C>T	NP_001366176.1:p.Ala437Val