Canonical Allele Identifier: CA438053791

Gene: PDE6B

Linked Data

• gnomAD v4: 4-662607-G-C
• MyVariant Identifiers: chr4:g.656396G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662607G>C , CM000666.2:g.662607G>C	GRCh38
NC_000004.11:g.656396G>C , CM000666.1:g.656396G>C	GRCh37
NC_000004.10:g.646396G>C	NCBI36
NG_009839.1:g.42034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1821G>C MANE Select	ENSP00000420295.1:p.Leu607=
ENST00000255622.10:c.1821G>C	ENSP00000255622.6:p.Leu607=
ENST00000429163.6:c.984G>C	ENSP00000406334.2:p.Leu328=
ENST00000496514.5:c.1821G>C	ENSP00000420295.1:p.Leu607=
NM_000283.3:c.1821G>C	NP_000274.2:p.Leu607=
NM_001145291.1:c.1821G>C	NP_001138763.1:p.Leu607=
NM_001145292.1:c.984G>C	NP_001138764.1:p.Leu328=
XM_011513473.1:c.2040G>C	XP_011511775.1:p.Leu680=
XM_011513474.1:c.2040G>C	XP_011511776.1:p.Leu680=
XM_011513475.1:c.1821G>C	XP_011511777.1:p.Leu607=
XM_011513476.1:c.2040G>C	XP_011511778.1:p.Leu680=
XM_011513477.1:c.1026G>C	XP_011511779.1:p.Leu342=
XM_011513478.1:c.750G>C	XP_011511780.1:p.Leu250=
XR_925029.1:n.196-3C>G
NM_001350154.1:c.984G>C	NP_001337083.1:p.Leu328=
NM_001350155.1:c.666G>C	NP_001337084.1:p.Leu222=
XM_011513473.3:c.2040G>C	XP_011511775.1:p.Leu680=
XM_011513474.3:c.2040G>C	XP_011511776.1:p.Leu680=
XM_011513475.2:c.1821G>C	XP_011511777.1:p.Leu607=
XM_011513476.3:c.2040G>C	XP_011511778.1:p.Leu680=
XM_011513478.2:c.750G>C	XP_011511780.1:p.Leu250=
XM_017008284.1:c.984G>C	XP_016863773.1:p.Leu328=
XM_017008285.1:c.984G>C	XP_016863774.1:p.Leu328=
XM_017008286.1:c.984G>C	XP_016863775.1:p.Leu328=
NM_001350154.2:c.984G>C	NP_001337083.1:p.Leu328=
NM_001350155.2:c.666G>C	NP_001337084.1:p.Leu222=
NM_000283.4:c.1821G>C MANE Select	NP_000274.3:p.Leu607=
NM_001145291.2:c.1821G>C	NP_001138763.2:p.Leu607=
NM_001145292.2:c.984G>C	NP_001138764.2:p.Leu328=
NM_001350154.3:c.984G>C	NP_001337083.1:p.Leu328=
NM_001350155.3:c.666G>C	NP_001337084.1:p.Leu222=
NM_001379246.1:c.984G>C	NP_001366175.1:p.Leu328=
NM_001379247.1:c.984G>C	NP_001366176.1:p.Leu328=