Canonical Allele Identifier: CA10621522

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349388
• ClinVar RCV Id: RCV000292745 ; RCV000387116
• dbSNP Id: rs886059546
• gnomAD v4: 4-664925-C-T
• MyVariant Identifiers: chr4:g.658714C>T (hg19) ; chr4:g.664925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664925C>T , CM000666.2:g.664925C>T	GRCh38
NC_000004.11:g.658714C>T , CM000666.1:g.658714C>T	GRCh37
NC_000004.10:g.648714C>T	NCBI36
NG_009839.1:g.44352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2174C>T MANE Select	ENSP00000420295.1:p.Pro725Leu
ENST00000255622.10:c.2174C>T	ENSP00000255622.6:p.Pro725Leu
ENST00000429163.6:c.1337C>T	ENSP00000406334.2:p.Pro446Leu
ENST00000461490.1:c.16C>T
ENST00000471824.6:c.254C>T	ENSP00000417852.2:p.Pro85Leu
ENST00000496514.5:c.2174C>T	ENSP00000420295.1:p.Pro725Leu
NM_000283.3:c.2174C>T	NP_000274.2:p.Pro725Leu
NM_001145291.1:c.2174C>T	NP_001138763.1:p.Pro725Leu
NM_001145292.1:c.1337C>T	NP_001138764.1:p.Pro446Leu
XM_011513473.1:c.2393C>T	XP_011511775.1:p.Pro798Leu
XM_011513474.1:c.2393C>T	XP_011511776.1:p.Pro798Leu
XM_011513475.1:c.2174C>T	XP_011511777.1:p.Pro725Leu
XM_011513476.1:c.2393C>T	XP_011511778.1:p.Pro798Leu
XM_011513477.1:c.1379C>T	XP_011511779.1:p.Pro460Leu
XM_011513478.1:c.1103C>T	XP_011511780.1:p.Pro368Leu
NM_001350154.1:c.1337C>T	NP_001337083.1:p.Pro446Leu
NM_001350155.1:c.1019C>T	NP_001337084.1:p.Pro340Leu
XM_011513473.3:c.2393C>T	XP_011511775.1:p.Pro798Leu
XM_011513474.3:c.2393C>T	XP_011511776.1:p.Pro798Leu
XM_011513475.2:c.2174C>T	XP_011511777.1:p.Pro725Leu
XM_011513476.3:c.2393C>T	XP_011511778.1:p.Pro798Leu
XM_011513478.2:c.1103C>T	XP_011511780.1:p.Pro368Leu
XM_017008284.1:c.1337C>T	XP_016863773.1:p.Pro446Leu
XM_017008285.1:c.1337C>T	XP_016863774.1:p.Pro446Leu
XM_017008286.1:c.1337C>T	XP_016863775.1:p.Pro446Leu
NM_001350154.2:c.1337C>T	NP_001337083.1:p.Pro446Leu
NM_001350155.2:c.1019C>T	NP_001337084.1:p.Pro340Leu
NM_000283.4:c.2174C>T MANE Select	NP_000274.3:p.Pro725Leu
NM_001145291.2:c.2174C>T	NP_001138763.2:p.Pro725Leu
NM_001145292.2:c.1337C>T	NP_001138764.2:p.Pro446Leu
NM_001350154.3:c.1337C>T	NP_001337083.1:p.Pro446Leu
NM_001350155.3:c.1019C>T	NP_001337084.1:p.Pro340Leu
NM_001379246.1:c.1337C>T	NP_001366175.1:p.Pro446Leu
NM_001379247.1:c.1337C>T	NP_001366176.1:p.Pro446Leu