Canonical Allele Identifier: CA4896759

Gene: DENND3

Linked Data

• dbSNP Id: rs778334141
• ExAC: 8:142178177 G / A
• gnomAD v2: 8-142178177-G-A
• gnomAD v4: 8-141168078-G-A
• COSMIC: COSM258826
• MyVariant Identifiers: chr8:g.142178177G>A (hg19) ; chr8:g.141168078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168078G>A , CM000670.2:g.141168078G>A	GRCh38
NC_000008.10:g.142178177G>A , CM000670.1:g.142178177G>A	GRCh37
NC_000008.9:g.142247359G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.1828G>A MANE Select	ENSP00000428714.1:p.Val610Met
ENST00000262585.6:c.1588G>A	ENSP00000262585.2:p.Val530Met
ENST00000424248.2:c.1432G>A	ENSP00000410594.1:p.Val478Met
ENST00000518668.5:c.1601G>A
ENST00000519811.5:c.1828G>A	ENSP00000428714.1:p.Val610Met
ENST00000520482.1:n.1369G>A
NM_014957.2:c.1588G>A	NP_055772.2:p.Val530Met
XM_005250838.3:c.1627G>A	XP_005250895.2:p.Val543Met
XM_005250839.2:c.1627G>A	XP_005250896.2:p.Val543Met
XM_005250840.3:c.1471G>A	XP_005250897.2:p.Val491Met
XM_005250841.2:c.1471G>A	XP_005250898.2:p.Val491Met
XM_005250842.3:c.1594G>A	XP_005250899.1:p.Val532Met
XM_005250843.3:c.1084G>A	XP_005250900.1:p.Val362Met
XM_011516933.1:c.1627G>A	XP_011515235.1:p.Val543Met
XM_011516934.1:c.1627G>A	XP_011515236.1:p.Val543Met
XM_011516935.1:c.1261G>A	XP_011515237.1:p.Val421Met
XM_011516936.1:c.1255G>A	XP_011515238.1:p.Val419Met
XM_011516937.1:c.1627G>A	XP_011515239.1:p.Val543Met
XM_011516938.1:c.796G>A	XP_011515240.1:p.Val266Met
XM_011516939.1:c.325G>A	XP_011515241.1:p.Val109Met
XM_011516940.1:c.325G>A	XP_011515242.1:p.Val109Met
XM_011516941.1:c.1627G>A	XP_011515243.1:p.Val543Met
XM_011516942.1:c.1627G>A	XP_011515244.1:p.Val543Met
XR_242384.2:n.1757G>A
XR_928310.1:n.1757G>A
XR_928311.1:n.1757G>A
XR_928312.1:n.1757G>A
NM_001352890.2:c.1828G>A	NP_001339819.2:p.Val610Met
NM_001362798.1:c.1828G>A	NP_001349727.1:p.Val610Met
NM_014957.4:c.1627G>A	NP_055772.3:p.Val543Met
NR_148197.2:n.1924G>A
XM_005250840.5:c.1672G>A	XP_005250897.3:p.Val558Met
XM_005250841.4:c.1672G>A	XP_005250898.3:p.Val558Met
XM_005250842.4:c.1594G>A	XP_005250899.1:p.Val532Met
XM_011516933.2:c.1828G>A	XP_011515235.2:p.Val610Met
XM_011516934.3:c.1828G>A	XP_011515236.2:p.Val610Met
XM_011516937.2:c.1828G>A	XP_011515239.2:p.Val610Met
XM_011516938.3:c.796G>A	XP_011515240.1:p.Val266Met
XM_011516939.3:c.325G>A	XP_011515241.1:p.Val109Met
XM_011516940.2:c.325G>A	XP_011515242.1:p.Val109Met
XM_011516941.3:c.1828G>A	XP_011515243.2:p.Val610Met
XM_017013241.1:c.1627G>A	XP_016868730.1:p.Val543Met
XM_017013242.1:c.1084G>A	XP_016868731.1:p.Val362Met
XM_017013243.1:c.364G>A	XP_016868732.1:p.Val122Met
XR_001745497.2:n.1974G>A
XR_001745498.2:n.1974G>A
XR_928310.3:n.1974G>A
XR_928312.3:n.1974G>A
NM_001352890.3:c.1828G>A MANE Select	NP_001339819.2:p.Val610Met
NM_001362798.2:c.1828G>A	NP_001349727.1:p.Val610Met
NM_014957.5:c.1627G>A	NP_055772.3:p.Val543Met
NR_148197.3:n.1947G>A