Canonical Allele Identifier: CA187325774

Gene: DENND3

Linked Data

• dbSNP Id: rs768699529
• gnomAD v3: 8-141168348-C-T
• gnomAD v4: 8-141168348-C-T
• COSMIC: COSM5651268
• MyVariant Identifiers: chr8:g.142178447C>T (hg19) ; chr8:g.141168348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168348C>T , CM000670.2:g.141168348C>T	GRCh38
NC_000008.10:g.142178447C>T , CM000670.1:g.142178447C>T	GRCh37
NC_000008.9:g.142247629C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2098C>T MANE Select	ENSP00000428714.1:p.Leu700Phe
ENST00000262585.6:c.1858C>T	ENSP00000262585.2:p.Leu620Phe
ENST00000424248.2:c.1702C>T	ENSP00000410594.1:p.Leu568Phe
ENST00000518668.5:c.1871C>T
ENST00000519811.5:c.2098C>T	ENSP00000428714.1:p.Leu700Phe
ENST00000520482.1:n.1639C>T
NM_014957.2:c.1858C>T	NP_055772.2:p.Leu620Phe
XM_005250838.3:c.1897C>T	XP_005250895.2:p.Leu633Phe
XM_005250839.2:c.1897C>T	XP_005250896.2:p.Leu633Phe
XM_005250840.3:c.1741C>T	XP_005250897.2:p.Leu581Phe
XM_005250841.2:c.1741C>T	XP_005250898.2:p.Leu581Phe
XM_005250842.3:c.1864C>T	XP_005250899.1:p.Leu622Phe
XM_005250843.3:c.1354C>T	XP_005250900.1:p.Leu452Phe
XM_011516933.1:c.1897C>T	XP_011515235.1:p.Leu633Phe
XM_011516934.1:c.1897C>T	XP_011515236.1:p.Leu633Phe
XM_011516935.1:c.1531C>T	XP_011515237.1:p.Leu511Phe
XM_011516936.1:c.1525C>T	XP_011515238.1:p.Leu509Phe
XM_011516937.1:c.1897C>T	XP_011515239.1:p.Leu633Phe
XM_011516938.1:c.1066C>T	XP_011515240.1:p.Leu356Phe
XM_011516939.1:c.595C>T	XP_011515241.1:p.Leu199Phe
XM_011516940.1:c.595C>T	XP_011515242.1:p.Leu199Phe
XM_011516941.1:c.1897C>T	XP_011515243.1:p.Leu633Phe
XM_011516942.1:c.1897C>T	XP_011515244.1:p.Leu633Phe
XR_242384.2:n.2027C>T
XR_928310.1:n.2027C>T
XR_928311.1:n.2027C>T
XR_928312.1:n.2027C>T
NM_001352890.2:c.2098C>T	NP_001339819.2:p.Leu700Phe
NM_001362798.1:c.2098C>T	NP_001349727.1:p.Leu700Phe
NM_014957.4:c.1897C>T	NP_055772.3:p.Leu633Phe
NR_148197.2:n.2194C>T
XM_005250840.5:c.1942C>T	XP_005250897.3:p.Leu648Phe
XM_005250841.4:c.1942C>T	XP_005250898.3:p.Leu648Phe
XM_005250842.4:c.1864C>T	XP_005250899.1:p.Leu622Phe
XM_011516933.2:c.2098C>T	XP_011515235.2:p.Leu700Phe
XM_011516934.3:c.2098C>T	XP_011515236.2:p.Leu700Phe
XM_011516937.2:c.2098C>T	XP_011515239.2:p.Leu700Phe
XM_011516938.3:c.1066C>T	XP_011515240.1:p.Leu356Phe
XM_011516939.3:c.595C>T	XP_011515241.1:p.Leu199Phe
XM_011516940.2:c.595C>T	XP_011515242.1:p.Leu199Phe
XM_011516941.3:c.2098C>T	XP_011515243.2:p.Leu700Phe
XM_017013241.1:c.1897C>T	XP_016868730.1:p.Leu633Phe
XM_017013242.1:c.1354C>T	XP_016868731.1:p.Leu452Phe
XM_017013243.1:c.634C>T	XP_016868732.1:p.Leu212Phe
XR_001745497.2:n.2244C>T
XR_001745498.2:n.2244C>T
XR_928310.3:n.2244C>T
XR_928312.3:n.2244C>T
NM_001352890.3:c.2098C>T MANE Select	NP_001339819.2:p.Leu700Phe
NM_001362798.2:c.2098C>T	NP_001349727.1:p.Leu700Phe
NM_014957.5:c.1897C>T	NP_055772.3:p.Leu633Phe
NR_148197.3:n.2217C>T