Canonical Allele Identifier: CA10647992

Gene: PDF COG8

Linked Data

• ClinVar Variation Id: 320306
• ClinVar RCV Id: RCV000260105
• dbSNP Id: rs1055399
• gnomAD v2: 16-69362779-C-A
• gnomAD v3: 16-69328876-C-A
• gnomAD v4: 16-69328876-C-A
• MyVariant Identifiers: chr16:g.69362779C>A (hg19) ; chr16:g.69328876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69328876C>A , CM000678.2:g.69328876C>A	GRCh38
NC_000016.9:g.69362779C>A , CM000678.1:g.69362779C>A	GRCh37
NC_000016.8:g.67920280C>A	NCBI36
NG_009013.1:g.15748G>T
NG_033043.1:g.6720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000288022.2:c.*146G>T (PDF) MANE Select	ENSP00000288022.1:n.*146G>T
ENST00000306875.10:c.*330G>T (COG8) MANE Select	ENSP00000305459.6:n.*330G>T
ENST00000288022.1:c.*146G>T (PDF)	ENSP00000288022.1:n.*146G>T
ENST00000306875.8:c.*330G>T (COG8)	ENSP00000305459.4:n.*330G>T
ENST00000562595.5:c.550-5173G>T (COG8)
ENST00000562949.1:c.655G>T	ENSP00000457718.1:n.655G>T
NM_022341.1:c.*146G>T (PDF)	NP_071736.1:n.*146G>T
NM_032382.4:c.*330G>T (COG8)	NP_115758.3:n.*330G>T
NM_022341.2:c.*146G>T (PDF) MANE Select	NP_071736.1:n.*146G>T
NM_032382.5:c.*330G>T (COG8) MANE Select	NP_115758.3:n.*330G>T
NM_001379261.1:c.*330G>T (COG8)	NP_001366190.1:n.*330G>T
NM_001379262.1:c.*146G>T (COG8)	NP_001366191.1:n.*146G>T
NM_001379263.1:c.*330G>T (COG8)	NP_001366192.1:n.*330G>T
NM_001379264.1:c.*327G>T (COG8)	NP_001366193.1:n.*327G>T
NM_001379265.1:c.*146G>T (COG8)	NP_001366194.1:n.*146G>T
NM_001379266.1:c.*160G>T (COG8)	NP_001366195.1:n.*160G>T