Canonical Allele Identifier: CA119158601

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 1352636
• ClinVar RCV Id: RCV002039837
• dbSNP Id: rs926956807
• gnomAD v3: 5-59215801-C-T
• gnomAD v4: 5-59215801-C-T
• COSMIC: COSM5996251 ; COSM5996252 ; COSM5996253 ; COSM5996254 ; COSM5996255 ; COSM5996256 ; COSM5996257
• MyVariant Identifiers: chr5:g.58511627C>T (hg19) ; chr5:g.59215801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215801C>T , CM000667.2:g.59215801C>T	GRCh38
NC_000005.9:g.58511627C>T , CM000667.1:g.58511627C>T	GRCh37
NC_000005.8:g.58547384C>T	NCBI36
NG_027957.1:g.1277299G>A
NG_027957.2:g.1313529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.431G>A	ENSP00000424852.1:p.Arg144Gln
ENST00000340635.11:c.623G>A MANE Select	ENSP00000345502.6:p.Arg208Gln
ENST00000636120.1:c.293G>A	ENSP00000490821.1:p.Arg98Gln
ENST00000638939.1:c.188G>A	ENSP00000492052.1:p.Arg63Gln
ENST00000309641.10:c.431G>A	ENSP00000308485.6:p.Arg144Gln
ENST00000340635.10:c.623G>A	ENSP00000345502.6:p.Arg208Gln
ENST00000360047.9:c.215G>A	ENSP00000353152.5:p.Arg72Gln
ENST00000405053.7:n.286G>A
ENST00000405755.6:c.257G>A	ENSP00000384806.2:p.Arg86Gln
ENST00000502484.6:c.440G>A	ENSP00000423094.2:p.Arg147Gln
ENST00000502575.1:c.431G>A	ENSP00000425917.1:p.Arg144Gln
ENST00000503258.5:c.233G>A	ENSP00000425605.1:p.Arg78Gln
ENST00000505453.1:c.-98-176830G>A	ENSP00000421013.1:n.-98-176830G>A
ENST00000507116.5:c.431G>A	ENSP00000424852.1:p.Arg144Gln
ENST00000514231.1:n.386G>A
ENST00000515324.1:n.135G>A
ENST00000546160.5:c.230G>A	ENSP00000442734.2:p.Arg77Gln
ENST00000621323.4:n.168G>A
NM_001104631.1:c.623G>A	NP_001098101.1:p.Arg208Gln
NM_001165899.1:c.440G>A	NP_001159371.1:p.Arg147Gln
NM_001197218.1:c.431G>A	NP_001184147.1:p.Arg144Gln
NM_001197219.1:c.257G>A	NP_001184148.1:p.Arg86Gln
NM_001197220.1:c.233G>A	NP_001184149.1:p.Arg78Gln
NM_006203.4:c.215G>A	NP_006194.2:p.Arg72Gln
XM_005248537.2:c.293G>A	XP_005248594.1:p.Arg98Gln
XM_005248538.3:c.215G>A	XP_005248595.1:p.Arg72Gln
XM_011543469.1:c.587G>A	XP_011541771.1:p.Arg196Gln
XM_011543470.1:c.587G>A	XP_011541772.1:p.Arg196Gln
XM_011543471.1:c.440G>A	XP_011541773.1:p.Arg147Gln
XM_011543472.1:c.440G>A	XP_011541774.1:p.Arg147Gln
XM_011543473.1:c.440G>A	XP_011541775.1:p.Arg147Gln
XM_011543474.1:c.410G>A	XP_011541776.1:p.Arg137Gln
XM_011543475.1:c.257G>A	XP_011541777.1:p.Arg86Gln
XM_011543476.1:c.203G>A	XP_011541778.1:p.Arg68Gln
XM_011543477.1:c.182G>A	XP_011541779.1:p.Arg61Gln
XM_011543478.1:c.119G>A	XP_011541780.1:p.Arg40Gln
XM_011543479.1:c.119G>A	XP_011541781.1:p.Arg40Gln
NM_001349241.1:c.410G>A	NP_001336170.1:p.Arg137Gln
NM_001349242.1:c.293G>A	NP_001336171.1:p.Arg98Gln
NM_001349243.1:c.-72G>A	NP_001336172.1:n.-72G>A
NM_001364599.1:c.440G>A	NP_001351528.1:p.Arg147Gln
NM_001364600.1:c.440G>A	NP_001351529.1:p.Arg147Gln
NM_001364601.1:c.431G>A	NP_001351530.1:p.Arg144Gln
NM_001364602.1:c.431G>A	NP_001351531.1:p.Arg144Gln
NM_001364603.1:c.-328G>A	NP_001351532.1:n.-328G>A
NM_001364604.1:c.-72G>A	NP_001351533.1:n.-72G>A
XM_011543470.2:c.587G>A	XP_011541772.1:p.Arg196Gln
XM_011543471.2:c.440G>A	XP_011541773.1:p.Arg147Gln
XM_017009565.1:c.587G>A	XP_016865054.1:p.Arg196Gln
XM_017009566.1:c.440G>A	XP_016865055.1:p.Arg147Gln
XM_017009567.1:c.425G>A	XP_016865056.1:p.Arg142Gln
XM_024446110.1:c.587G>A	XP_024301878.1:p.Arg196Gln
XM_024446112.1:c.440G>A	XP_024301880.1:p.Arg147Gln
NM_001104631.2:c.623G>A MANE Select	NP_001098101.1:p.Arg208Gln
NM_001165899.2:c.440G>A	NP_001159371.1:p.Arg147Gln
NM_001197218.2:c.431G>A	NP_001184147.1:p.Arg144Gln
NM_001197219.2:c.257G>A	NP_001184148.1:p.Arg86Gln
NM_001197220.2:c.233G>A	NP_001184149.1:p.Arg78Gln
NM_001349241.2:c.410G>A	NP_001336170.1:p.Arg137Gln
NM_001349243.2:c.-72G>A	NP_001336172.1:n.-72G>A
NM_001364600.2:c.440G>A	NP_001351529.1:p.Arg147Gln
NM_001364602.2:c.431G>A	NP_001351531.1:p.Arg144Gln
NM_001349242.2:c.293G>A	NP_001336171.1:p.Arg98Gln
NM_006203.5:c.215G>A	NP_006194.2:p.Arg72Gln