Canonical Allele Identifier: CA372344004

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168253-T-C
• MyVariant Identifiers: chr8:g.142178352T>C (hg19) ; chr8:g.141168253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168253T>C , CM000670.2:g.141168253T>C	GRCh38
NC_000008.10:g.142178352T>C , CM000670.1:g.142178352T>C	GRCh37
NC_000008.9:g.142247534T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2003T>C MANE Select	ENSP00000428714.1:p.Ile668Thr
ENST00000262585.6:c.1763T>C	ENSP00000262585.2:p.Ile588Thr
ENST00000424248.2:c.1607T>C	ENSP00000410594.1:p.Ile536Thr
ENST00000518668.5:c.1776T>C
ENST00000519811.5:c.2003T>C	ENSP00000428714.1:p.Ile668Thr
ENST00000520482.1:n.1544T>C
NM_014957.2:c.1763T>C	NP_055772.2:p.Ile588Thr
XM_005250838.3:c.1802T>C	XP_005250895.2:p.Ile601Thr
XM_005250839.2:c.1802T>C	XP_005250896.2:p.Ile601Thr
XM_005250840.3:c.1646T>C	XP_005250897.2:p.Ile549Thr
XM_005250841.2:c.1646T>C	XP_005250898.2:p.Ile549Thr
XM_005250842.3:c.1769T>C	XP_005250899.1:p.Ile590Thr
XM_005250843.3:c.1259T>C	XP_005250900.1:p.Ile420Thr
XM_011516933.1:c.1802T>C	XP_011515235.1:p.Ile601Thr
XM_011516934.1:c.1802T>C	XP_011515236.1:p.Ile601Thr
XM_011516935.1:c.1436T>C	XP_011515237.1:p.Ile479Thr
XM_011516936.1:c.1430T>C	XP_011515238.1:p.Ile477Thr
XM_011516937.1:c.1802T>C	XP_011515239.1:p.Ile601Thr
XM_011516938.1:c.971T>C	XP_011515240.1:p.Ile324Thr
XM_011516939.1:c.500T>C	XP_011515241.1:p.Ile167Thr
XM_011516940.1:c.500T>C	XP_011515242.1:p.Ile167Thr
XM_011516941.1:c.1802T>C	XP_011515243.1:p.Ile601Thr
XM_011516942.1:c.1802T>C	XP_011515244.1:p.Ile601Thr
XR_242384.2:n.1932T>C
XR_928310.1:n.1932T>C
XR_928311.1:n.1932T>C
XR_928312.1:n.1932T>C
NM_001352890.2:c.2003T>C	NP_001339819.2:p.Ile668Thr
NM_001362798.1:c.2003T>C	NP_001349727.1:p.Ile668Thr
NM_014957.4:c.1802T>C	NP_055772.3:p.Ile601Thr
NR_148197.2:n.2099T>C
XM_005250840.5:c.1847T>C	XP_005250897.3:p.Ile616Thr
XM_005250841.4:c.1847T>C	XP_005250898.3:p.Ile616Thr
XM_005250842.4:c.1769T>C	XP_005250899.1:p.Ile590Thr
XM_011516933.2:c.2003T>C	XP_011515235.2:p.Ile668Thr
XM_011516934.3:c.2003T>C	XP_011515236.2:p.Ile668Thr
XM_011516937.2:c.2003T>C	XP_011515239.2:p.Ile668Thr
XM_011516938.3:c.971T>C	XP_011515240.1:p.Ile324Thr
XM_011516939.3:c.500T>C	XP_011515241.1:p.Ile167Thr
XM_011516940.2:c.500T>C	XP_011515242.1:p.Ile167Thr
XM_011516941.3:c.2003T>C	XP_011515243.2:p.Ile668Thr
XM_017013241.1:c.1802T>C	XP_016868730.1:p.Ile601Thr
XM_017013242.1:c.1259T>C	XP_016868731.1:p.Ile420Thr
XM_017013243.1:c.539T>C	XP_016868732.1:p.Ile180Thr
XR_001745497.2:n.2149T>C
XR_001745498.2:n.2149T>C
XR_928310.3:n.2149T>C
XR_928312.3:n.2149T>C
NM_001352890.3:c.2003T>C MANE Select	NP_001339819.2:p.Ile668Thr
NM_001362798.2:c.2003T>C	NP_001349727.1:p.Ile668Thr
NM_014957.5:c.1802T>C	NP_055772.3:p.Ile601Thr
NR_148197.3:n.2122T>C