Canonical Allele Identifier: CA350866662
Community Standard Title: NM_000091.5(COL4A3):c.4918A>T (p.Arg1640Ter)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227310938A>T , CM000664.2:g.227310938A>T GRCh38
NC_000002.11:g.228175654A>T , CM000664.1:g.228175654A>T GRCh37
NC_000002.10:g.227883898A>T NCBI36
NG_011591.1:g.151374A>T , LRG_230:g.151374A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.4918A>T (COL4A3) MANE Select NP_000082.2:p.Arg1640Ter
ENST00000396578.8:c.4918A>T (COL4A3) MANE Select ENSP00000379823.3:p.Arg1640Ter
NM_000091.4:c.4918A>T , LRG_230t1:c.4918A>T (COL4A3) NP_000082.2:p.Arg1640Ter
NR_102371.1:n.48-5283T>A (MFF-DT)
ENST00000396578.7:c.4918A>T (COL4A3) ENSP00000379823.3:p.Arg1640Ter
ENST00000469504.1:n.426A>T (COL4A3)
ENST00000469504.2:c.711A>T (COL4A3) ENSP00000493493.1:n.711A>T
ENST00000471862.2:n.2176A>T (COL4A3)
ENST00000643388.1:c.442-848A>T (COL4A3) ENSP00000495177.1:n.442-848A>T
ENST00000682257.1:n.151-848A>T (COL4A3)
ENST00000682970.1:n.216A>T (COL4A3)
ENST00000683077.1:n.1857A>T (COL4A3)
ENST00000684413.1:n.2485A>T (COL4A3)
ENST00000684724.1:n.339A>T (COL4A3)
XM_005246276.2:c.4756-848A>T (COL4A3) XP_005246333.1:n.4756-848A>T
XM_005246277.2:c.4813A>T (COL4A3) XP_005246334.1:p.Arg1605Ter
XM_005246277.3:c.4813A>T (COL4A3) XP_005246334.1:p.Arg1605Ter
XM_011510555.1:c.*75A>T (COL4A3) XP_011508857.1:n.*75A>T
XM_011510556.1:c.3679A>T (COL4A3) XP_011508858.1:p.Arg1227Ter
XM_011510556.2:c.3679A>T (COL4A3) XP_011508858.1:p.Arg1227Ter
XR_241280.2:n.4878A>T (COL4A3)
XR_241280.3:n.4878A>T (COL4A3)