Canonical Allele Identifier: CA5002872
Community Standard Title: NM_001330640.2(DENND4C):c.1399A>G (p.Ile467Val)
Gene: DENND4C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.19305439A>G , CM000671.2:g.19305439A>G GRCh38
NC_000009.11:g.19305437A>G , CM000671.1:g.19305437A>G GRCh37
NC_000009.10:g.19295437A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330640.2:c.1399A>G MANE Select NP_001317569.1:p.Ile467Val
ENST00000434457.7:c.1399A>G MANE Select ENSP00000473469.1:p.Ile467Val
NM_001330640.1:c.1399A>G NP_001317569.1:p.Ile467Val
NM_001386026.2:c.1399A>G NP_001372955.1:p.Ile467Val
NM_001386030.1:c.1294A>G NP_001372959.1:p.Ile432Val
NM_001386031.1:c.558+18418A>G NP_001372960.1:n.558+18418A>G
NM_001386032.1:c.-20+5108A>G NP_001372961.1:n.-20+5108A>G
NM_001386034.1:c.-20+5108A>G NP_001372963.1:n.-20+5108A>G
NM_001386035.1:c.343A>G NP_001372964.1:p.Ile115Val
NM_001386036.1:c.306-10978A>G NP_001372965.1:n.306-10978A>G
NM_001386037.1:c.1399A>G NP_001372966.1:p.Ile467Val
NM_001386038.1:c.1399A>G NP_001372967.1:p.Ile467Val
NM_001386039.1:c.-20+5108A>G NP_001372968.1:n.-20+5108A>G
NM_001386040.1:c.1399A>G NP_001372969.1:p.Ile467Val
NM_001386041.1:c.1399A>G NP_001372970.1:p.Ile467Val
NM_001386042.1:c.1399A>G NP_001372971.1:p.Ile467Val
NM_001386043.1:c.691A>G NP_001372972.1:p.Ile231Val
NM_001386044.1:c.691A>G NP_001372973.1:p.Ile231Val
NM_001386045.1:c.1399A>G NP_001372974.1:p.Ile467Val
NM_001386046.1:c.1399A>G NP_001372975.1:p.Ile467Val
NM_001386047.1:c.1399A>G NP_001372976.1:p.Ile467Val
NM_001386048.1:c.691A>G NP_001372977.1:p.Ile231Val
NM_017925.6:c.1399A>G NP_060395.5:p.Ile467Val
NM_017925.7:c.1399A>G NP_060395.5:p.Ile467Val
NR_073201.3:n.1485A>G
NR_073201.4:n.1557A>G
NR_169842.1:n.1737A>G
NR_169843.1:n.1557A>G
NR_169844.1:n.1557A>G
NR_169845.1:n.1557A>G
NR_169846.1:n.1318A>G
NR_169847.1:n.1318A>G
NR_169848.1:n.1469+5108A>G
NR_169849.1:n.1518A>G
NR_169850.1:n.1669+5108A>G
NR_169851.1:n.1557A>G
NR_169852.1:n.1757A>G
NR_169853.1:n.1557A>G
NR_169854.1:n.1757A>G
ENST00000380437.8:n.717A>G
ENST00000434457.6:c.1399A>G ENSP00000473469.1:p.Ile467Val
ENST00000494124.2:c.717A>G
ENST00000602925.5:c.1399A>G ENSP00000473565.1:p.Ile467Val
XM_006716804.2:c.1399A>G XP_006716867.1:p.Ile467Val
XM_006716805.2:c.1399A>G XP_006716868.1:p.Ile467Val
XM_006716805.3:c.1399A>G XP_006716868.1:p.Ile467Val
XM_006716806.2:c.691A>G XP_006716869.1:p.Ile231Val
XM_006716807.2:c.-20+5108A>G XP_006716870.1:n.-20+5108A>G
XM_006716807.4:c.-20+5108A>G XP_006716870.1:n.-20+5108A>G
XM_011517959.1:c.1399A>G XP_011516261.1:p.Ile467Val
XM_011517959.3:c.1399A>G XP_011516261.1:p.Ile467Val
XM_017014917.1:c.1399A>G XP_016870406.1:p.Ile467Val
XM_017014918.1:c.691A>G XP_016870407.1:p.Ile231Val
XM_017014919.1:c.691A>G XP_016870408.1:p.Ile231Val
XM_017014920.1:c.-20+5108A>G XP_016870409.1:n.-20+5108A>G
XR_001746350.2:n.1653A>G