Canonical Allele Identifier: CA10621527

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349416
• ClinVar RCV Id: RCV000259755 ; RCV000317306
• dbSNP Id: rs575639886
• gnomAD v2: 4-664660-G-A
• gnomAD v3: 4-670871-G-A
• gnomAD v4: 4-670871-G-A
• MyVariant Identifiers: chr4:g.664660G>A (hg19) ; chr4:g.670871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.670871G>A , CM000666.2:g.670871G>A	GRCh38
NC_000004.11:g.664660G>A , CM000666.1:g.664660G>A	GRCh37
NC_000004.10:g.654660G>A	NCBI36
NG_009839.1:g.50298G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.3:c.*764G>A	NP_000274.2:n.*764G>A
NM_001145291.1:c.*764G>A	NP_001138763.1:n.*764G>A
NM_001145292.1:c.*764G>A	NP_001138764.1:n.*764G>A
NM_001350154.1:c.*657G>A	NP_001337083.1:n.*657G>A
NM_001350155.1:c.*657G>A	NP_001337084.1:n.*657G>A
XM_011513474.3:c.*764G>A	XP_011511776.1:n.*764G>A
NM_001350154.2:c.*657G>A	NP_001337083.1:n.*657G>A
NM_001350155.2:c.*657G>A	NP_001337084.1:n.*657G>A