Canonical Allele Identifier: CA2794053

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349312
• ClinVar RCV Id: RCV000282880 ; RCV000379626 ; RCV001340998
• dbSNP Id: rs201584824
• ExAC: 4:629729 C / A
• gnomAD v2: 4-629729-C-A
• gnomAD v3: 4-635940-C-A
• gnomAD v4: 4-635940-C-A
• MyVariant Identifiers: chr4:g.629729C>A (hg19) ; chr4:g.635940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.635940C>A , CM000666.2:g.635940C>A	GRCh38
NC_000004.11:g.629729C>A , CM000666.1:g.629729C>A	GRCh37
NC_000004.10:g.619729C>A	NCBI36
NG_009839.1:g.15367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.682C>A MANE Select	ENSP00000420295.1:p.Leu228Ile
ENST00000255622.10:c.682C>A	ENSP00000255622.6:p.Leu228Ile
ENST00000496514.5:c.682C>A	ENSP00000420295.1:p.Leu228Ile
NM_000283.3:c.682C>A	NP_000274.2:p.Leu228Ile
NM_001145291.1:c.682C>A	NP_001138763.1:p.Leu228Ile
XM_011513473.1:c.901C>A	XP_011511775.1:p.Leu301Ile
XM_011513474.1:c.901C>A	XP_011511776.1:p.Leu301Ile
XM_011513475.1:c.682C>A	XP_011511777.1:p.Leu228Ile
XM_011513476.1:c.901C>A	XP_011511778.1:p.Leu301Ile
XM_011513473.3:c.901C>A	XP_011511775.1:p.Leu301Ile
XM_011513474.3:c.901C>A	XP_011511776.1:p.Leu301Ile
XM_011513475.2:c.682C>A	XP_011511777.1:p.Leu228Ile
XM_011513476.3:c.901C>A	XP_011511778.1:p.Leu301Ile
NM_000283.4:c.682C>A MANE Select	NP_000274.3:p.Leu228Ile
NM_001145291.2:c.682C>A	NP_001138763.2:p.Leu228Ile