Canonical Allele Identifier: CA372343990

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168247-C-T
• MyVariant Identifiers: chr8:g.142178346C>T (hg19) ; chr8:g.141168247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168247C>T , CM000670.2:g.141168247C>T	GRCh38
NC_000008.10:g.142178346C>T , CM000670.1:g.142178346C>T	GRCh37
NC_000008.9:g.142247528C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.1997C>T MANE Select	ENSP00000428714.1:p.Thr666Ile
ENST00000262585.6:c.1757C>T	ENSP00000262585.2:p.Thr586Ile
ENST00000424248.2:c.1601C>T	ENSP00000410594.1:p.Thr534Ile
ENST00000518668.5:c.1770C>T
ENST00000519811.5:c.1997C>T	ENSP00000428714.1:p.Thr666Ile
ENST00000520482.1:n.1538C>T
NM_014957.2:c.1757C>T	NP_055772.2:p.Thr586Ile
XM_005250838.3:c.1796C>T	XP_005250895.2:p.Thr599Ile
XM_005250839.2:c.1796C>T	XP_005250896.2:p.Thr599Ile
XM_005250840.3:c.1640C>T	XP_005250897.2:p.Thr547Ile
XM_005250841.2:c.1640C>T	XP_005250898.2:p.Thr547Ile
XM_005250842.3:c.1763C>T	XP_005250899.1:p.Thr588Ile
XM_005250843.3:c.1253C>T	XP_005250900.1:p.Thr418Ile
XM_011516933.1:c.1796C>T	XP_011515235.1:p.Thr599Ile
XM_011516934.1:c.1796C>T	XP_011515236.1:p.Thr599Ile
XM_011516935.1:c.1430C>T	XP_011515237.1:p.Thr477Ile
XM_011516936.1:c.1424C>T	XP_011515238.1:p.Thr475Ile
XM_011516937.1:c.1796C>T	XP_011515239.1:p.Thr599Ile
XM_011516938.1:c.965C>T	XP_011515240.1:p.Thr322Ile
XM_011516939.1:c.494C>T	XP_011515241.1:p.Thr165Ile
XM_011516940.1:c.494C>T	XP_011515242.1:p.Thr165Ile
XM_011516941.1:c.1796C>T	XP_011515243.1:p.Thr599Ile
XM_011516942.1:c.1796C>T	XP_011515244.1:p.Thr599Ile
XR_242384.2:n.1926C>T
XR_928310.1:n.1926C>T
XR_928311.1:n.1926C>T
XR_928312.1:n.1926C>T
NM_001352890.2:c.1997C>T	NP_001339819.2:p.Thr666Ile
NM_001362798.1:c.1997C>T	NP_001349727.1:p.Thr666Ile
NM_014957.4:c.1796C>T	NP_055772.3:p.Thr599Ile
NR_148197.2:n.2093C>T
XM_005250840.5:c.1841C>T	XP_005250897.3:p.Thr614Ile
XM_005250841.4:c.1841C>T	XP_005250898.3:p.Thr614Ile
XM_005250842.4:c.1763C>T	XP_005250899.1:p.Thr588Ile
XM_011516933.2:c.1997C>T	XP_011515235.2:p.Thr666Ile
XM_011516934.3:c.1997C>T	XP_011515236.2:p.Thr666Ile
XM_011516937.2:c.1997C>T	XP_011515239.2:p.Thr666Ile
XM_011516938.3:c.965C>T	XP_011515240.1:p.Thr322Ile
XM_011516939.3:c.494C>T	XP_011515241.1:p.Thr165Ile
XM_011516940.2:c.494C>T	XP_011515242.1:p.Thr165Ile
XM_011516941.3:c.1997C>T	XP_011515243.2:p.Thr666Ile
XM_017013241.1:c.1796C>T	XP_016868730.1:p.Thr599Ile
XM_017013242.1:c.1253C>T	XP_016868731.1:p.Thr418Ile
XM_017013243.1:c.533C>T	XP_016868732.1:p.Thr178Ile
XR_001745497.2:n.2143C>T
XR_001745498.2:n.2143C>T
XR_928310.3:n.2143C>T
XR_928312.3:n.2143C>T
NM_001352890.3:c.1997C>T MANE Select	NP_001339819.2:p.Thr666Ile
NM_001362798.2:c.1997C>T	NP_001349727.1:p.Thr666Ile
NM_014957.5:c.1796C>T	NP_055772.3:p.Thr599Ile
NR_148197.3:n.2116C>T