Canonical Allele Identifier: CA1332863118
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312013C= , CM000664.2:g.227312013C= GRCh38
NC_000002.11:g.228176729C= , CM000664.1:g.228176729C= GRCh37
NC_000002.10:g.227884973C= NCBI36
NG_011591.1:g.152449C= , LRG_230:g.152449C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2414C= (COL4A3)
ENST00000682257.1:n.378C= (COL4A3)
ENST00000682970.1:n.454C= (COL4A3)
ENST00000683077.1:n.2095C= (COL4A3)
ENST00000684413.1:n.2723C= (COL4A3)
ENST00000684724.1:n.577C= (COL4A3)
ENST00000396578.8:c.*143C= (COL4A3) MANE Select ENSP00000379823.3:n.*143C=
ENST00000396578.7:c.*143C= (COL4A3) ENSP00000379823.3:n.*143C=
NM_000091.4:c.*143C= , LRG_230t1:c.*143C= (COL4A3) NP_000082.2:n.*143C=
NR_102371.1:n.48-6358G= (MFF-DT)
XM_005246276.2:c.*69C= (COL4A3) XP_005246333.1:n.*69C=
XM_005246277.2:c.*143C= (COL4A3) XP_005246334.1:n.*143C=
XM_011510556.1:c.*143C= (COL4A3) XP_011508858.1:n.*143C=
XR_241280.2:n.5116C= (COL4A3)
XM_005246277.3:c.*143C= (COL4A3) XP_005246334.1:n.*143C=
XM_011510556.2:c.*143C= (COL4A3) XP_011508858.1:n.*143C=
XR_241280.3:n.5116C= (COL4A3)
NM_000091.5:c.*143C= (COL4A3) MANE Select NP_000082.2:n.*143C=