Canonical Allele Identifier: CA187322710

Gene: DENND3

Linked Data

• dbSNP Id: rs994155182
• gnomAD v2: 8-142178158-T-C
• gnomAD v3: 8-141168059-T-C
• gnomAD v4: 8-141168059-T-C
• MyVariant Identifiers: chr8:g.142178158T>C (hg19) ; chr8:g.141168059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168059T>C , CM000670.2:g.141168059T>C	GRCh38
NC_000008.10:g.142178158T>C , CM000670.1:g.142178158T>C	GRCh37
NC_000008.9:g.142247340T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.1809T>C MANE Select	ENSP00000428714.1:p.Phe603=
ENST00000262585.6:c.1569T>C	ENSP00000262585.2:p.Phe523=
ENST00000424248.2:c.1413T>C	ENSP00000410594.1:p.Phe471=
ENST00000518668.5:c.1582T>C
ENST00000519811.5:c.1809T>C	ENSP00000428714.1:p.Phe603=
ENST00000520482.1:n.1350T>C
NM_014957.2:c.1569T>C	NP_055772.2:p.Phe523=
XM_005250838.3:c.1608T>C	XP_005250895.2:p.Phe536=
XM_005250839.2:c.1608T>C	XP_005250896.2:p.Phe536=
XM_005250840.3:c.1452T>C	XP_005250897.2:p.Phe484=
XM_005250841.2:c.1452T>C	XP_005250898.2:p.Phe484=
XM_005250842.3:c.1575T>C	XP_005250899.1:p.Phe525=
XM_005250843.3:c.1065T>C	XP_005250900.1:p.Phe355=
XM_011516933.1:c.1608T>C	XP_011515235.1:p.Phe536=
XM_011516934.1:c.1608T>C	XP_011515236.1:p.Phe536=
XM_011516935.1:c.1242T>C	XP_011515237.1:p.Phe414=
XM_011516936.1:c.1236T>C	XP_011515238.1:p.Phe412=
XM_011516937.1:c.1608T>C	XP_011515239.1:p.Phe536=
XM_011516938.1:c.777T>C	XP_011515240.1:p.Phe259=
XM_011516939.1:c.306T>C	XP_011515241.1:p.Phe102=
XM_011516940.1:c.306T>C	XP_011515242.1:p.Phe102=
XM_011516941.1:c.1608T>C	XP_011515243.1:p.Phe536=
XM_011516942.1:c.1608T>C	XP_011515244.1:p.Phe536=
XR_242384.2:n.1738T>C
XR_928310.1:n.1738T>C
XR_928311.1:n.1738T>C
XR_928312.1:n.1738T>C
NM_001352890.2:c.1809T>C	NP_001339819.2:p.Phe603=
NM_001362798.1:c.1809T>C	NP_001349727.1:p.Phe603=
NM_014957.4:c.1608T>C	NP_055772.3:p.Phe536=
NR_148197.2:n.1905T>C
XM_005250840.5:c.1653T>C	XP_005250897.3:p.Phe551=
XM_005250841.4:c.1653T>C	XP_005250898.3:p.Phe551=
XM_005250842.4:c.1575T>C	XP_005250899.1:p.Phe525=
XM_011516933.2:c.1809T>C	XP_011515235.2:p.Phe603=
XM_011516934.3:c.1809T>C	XP_011515236.2:p.Phe603=
XM_011516937.2:c.1809T>C	XP_011515239.2:p.Phe603=
XM_011516938.3:c.777T>C	XP_011515240.1:p.Phe259=
XM_011516939.3:c.306T>C	XP_011515241.1:p.Phe102=
XM_011516940.2:c.306T>C	XP_011515242.1:p.Phe102=
XM_011516941.3:c.1809T>C	XP_011515243.2:p.Phe603=
XM_017013241.1:c.1608T>C	XP_016868730.1:p.Phe536=
XM_017013242.1:c.1065T>C	XP_016868731.1:p.Phe355=
XM_017013243.1:c.345T>C	XP_016868732.1:p.Phe115=
XR_001745497.2:n.1955T>C
XR_001745498.2:n.1955T>C
XR_928310.3:n.1955T>C
XR_928312.3:n.1955T>C
NM_001352890.3:c.1809T>C MANE Select	NP_001339819.2:p.Phe603=
NM_001362798.2:c.1809T>C	NP_001349727.1:p.Phe603=
NM_014957.5:c.1608T>C	NP_055772.3:p.Phe536=
NR_148197.3:n.1928T>C