Canonical Allele Identifier: CA4896751

Gene: DENND3

Linked Data

• dbSNP Id: rs752943824
• ExAC: 8:142178141 A / G
• gnomAD v2: 8-142178141-A-G
• gnomAD v4: 8-141168042-A-G
• MyVariant Identifiers: chr8:g.142178141A>G (hg19) ; chr8:g.141168042A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168042A>G , CM000670.2:g.141168042A>G	GRCh38
NC_000008.10:g.142178141A>G , CM000670.1:g.142178141A>G	GRCh37
NC_000008.9:g.142247323A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.1792A>G MANE Select	ENSP00000428714.1:p.Ile598Val
ENST00000262585.6:c.1552A>G	ENSP00000262585.2:p.Ile518Val
ENST00000424248.2:c.1396A>G	ENSP00000410594.1:p.Ile466Val
ENST00000518668.5:c.1565A>G
ENST00000519811.5:c.1792A>G	ENSP00000428714.1:p.Ile598Val
ENST00000520482.1:n.1333A>G
NM_014957.2:c.1552A>G	NP_055772.2:p.Ile518Val
XM_005250838.3:c.1591A>G	XP_005250895.2:p.Ile531Val
XM_005250839.2:c.1591A>G	XP_005250896.2:p.Ile531Val
XM_005250840.3:c.1435A>G	XP_005250897.2:p.Ile479Val
XM_005250841.2:c.1435A>G	XP_005250898.2:p.Ile479Val
XM_005250842.3:c.1558A>G	XP_005250899.1:p.Ile520Val
XM_005250843.3:c.1048A>G	XP_005250900.1:p.Ile350Val
XM_011516933.1:c.1591A>G	XP_011515235.1:p.Ile531Val
XM_011516934.1:c.1591A>G	XP_011515236.1:p.Ile531Val
XM_011516935.1:c.1225A>G	XP_011515237.1:p.Ile409Val
XM_011516936.1:c.1219A>G	XP_011515238.1:p.Ile407Val
XM_011516937.1:c.1591A>G	XP_011515239.1:p.Ile531Val
XM_011516938.1:c.760A>G	XP_011515240.1:p.Ile254Val
XM_011516939.1:c.289A>G	XP_011515241.1:p.Ile97Val
XM_011516940.1:c.289A>G	XP_011515242.1:p.Ile97Val
XM_011516941.1:c.1591A>G	XP_011515243.1:p.Ile531Val
XM_011516942.1:c.1591A>G	XP_011515244.1:p.Ile531Val
XR_242384.2:n.1721A>G
XR_928310.1:n.1721A>G
XR_928311.1:n.1721A>G
XR_928312.1:n.1721A>G
NM_001352890.2:c.1792A>G	NP_001339819.2:p.Ile598Val
NM_001362798.1:c.1792A>G	NP_001349727.1:p.Ile598Val
NM_014957.4:c.1591A>G	NP_055772.3:p.Ile531Val
NR_148197.2:n.1888A>G
XM_005250840.5:c.1636A>G	XP_005250897.3:p.Ile546Val
XM_005250841.4:c.1636A>G	XP_005250898.3:p.Ile546Val
XM_005250842.4:c.1558A>G	XP_005250899.1:p.Ile520Val
XM_011516933.2:c.1792A>G	XP_011515235.2:p.Ile598Val
XM_011516934.3:c.1792A>G	XP_011515236.2:p.Ile598Val
XM_011516937.2:c.1792A>G	XP_011515239.2:p.Ile598Val
XM_011516938.3:c.760A>G	XP_011515240.1:p.Ile254Val
XM_011516939.3:c.289A>G	XP_011515241.1:p.Ile97Val
XM_011516940.2:c.289A>G	XP_011515242.1:p.Ile97Val
XM_011516941.3:c.1792A>G	XP_011515243.2:p.Ile598Val
XM_017013241.1:c.1591A>G	XP_016868730.1:p.Ile531Val
XM_017013242.1:c.1048A>G	XP_016868731.1:p.Ile350Val
XM_017013243.1:c.328A>G	XP_016868732.1:p.Ile110Val
XR_001745497.2:n.1938A>G
XR_001745498.2:n.1938A>G
XR_928310.3:n.1938A>G
XR_928312.3:n.1938A>G
NM_001352890.3:c.1792A>G MANE Select	NP_001339819.2:p.Ile598Val
NM_001362798.2:c.1792A>G	NP_001349727.1:p.Ile598Val
NM_014957.5:c.1591A>G	NP_055772.3:p.Ile531Val
NR_148197.3:n.1911A>G