Canonical Allele Identifier: CA200297

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 193074
• ClinVar RCV Id: RCV000173098 ; RCV000337389 ; RCV000398223 ; RCV001518969
• dbSNP Id: rs199974771
• ExAC: 4:619547 C / G
• gnomAD v2: 4-619547-C-G
• gnomAD v3: 4-625758-C-G
• gnomAD v4: 4-625758-C-G
• MyVariant Identifiers: chr4:g.619547C>G (hg19) ; chr4:g.625758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625758C>G , CM000666.2:g.625758C>G	GRCh38
NC_000004.11:g.619547C>G , CM000666.1:g.619547C>G	GRCh37
NC_000004.10:g.609547C>G	NCBI36
NG_009839.1:g.5185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.132C>G MANE Select	ENSP00000420295.1:p.Cys44Trp
ENST00000255622.10:c.132C>G	ENSP00000255622.6:p.Cys44Trp
ENST00000496514.5:c.132C>G	ENSP00000420295.1:p.Cys44Trp
NM_000283.3:c.132C>G	NP_000274.2:p.Cys44Trp
NM_001145291.1:c.132C>G	NP_001138763.1:p.Cys44Trp
XM_011513473.1:c.351C>G	XP_011511775.1:p.Cys117Trp
XM_011513474.1:c.351C>G	XP_011511776.1:p.Cys117Trp
XM_011513475.1:c.132C>G	XP_011511777.1:p.Cys44Trp
XM_011513476.1:c.351C>G	XP_011511778.1:p.Cys117Trp
XM_011513473.3:c.351C>G	XP_011511775.1:p.Cys117Trp
XM_011513474.3:c.351C>G	XP_011511776.1:p.Cys117Trp
XM_011513475.2:c.132C>G	XP_011511777.1:p.Cys44Trp
XM_011513476.3:c.351C>G	XP_011511778.1:p.Cys117Trp
NM_000283.4:c.132C>G MANE Select	NP_000274.3:p.Cys44Trp
NM_001145291.2:c.132C>G	NP_001138763.2:p.Cys44Trp