Canonical Allele Identifier: CA1332849703
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227280498G= , CM000664.2:g.227280498G= GRCh38
NC_000002.11:g.228145214G= , CM000664.1:g.228145214G= GRCh37
NC_000002.10:g.227853458G= NCBI36
NG_011591.1:g.120934G= , LRG_230:g.120934G=

Transcript Alleles

HGVS Amino-acid change
ENST00000396578.8:c.2282G= (COL4A3) MANE Select ENSP00000379823.3:p.Arg761=
ENST00000396578.7:c.2282G= (COL4A3) ENSP00000379823.3:p.Arg761=
NM_000091.4:c.2282G= , LRG_230t1:c.2282G= (COL4A3) NP_000082.2:p.Arg761=
NR_102371.1:n.330-923C= (MFF-DT)
XM_005246276.2:c.2282G= (COL4A3) XP_005246333.1:p.Arg761=
XM_005246277.2:c.2177G= (COL4A3) XP_005246334.1:p.Arg726=
XM_005246280.2:c.2282G= (COL4A3) XP_005246337.1:p.Arg761=
XM_006712245.2:c.2282G= (COL4A3) XP_006712308.1:p.Arg761=
XM_011510555.1:c.2282G= (COL4A3) XP_011508857.1:p.Arg761=
XM_011510556.1:c.1043G= (COL4A3) XP_011508858.1:p.Arg348=
XR_241280.2:n.2420G= (COL4A3)
XM_005246277.3:c.2177G= (COL4A3) XP_005246334.1:p.Arg726=
XM_005246280.3:c.2282G= (COL4A3) XP_005246337.1:p.Arg761=
XM_006712245.3:c.2282G= (COL4A3) XP_006712308.1:p.Arg761=
XM_011510556.2:c.1043G= (COL4A3) XP_011508858.1:p.Arg348=
XM_017003295.1:c.2282G= (COL4A3) XP_016858784.1:p.Arg761=
XR_001738601.1:n.2420G= (COL4A3)
XR_241280.3:n.2420G= (COL4A3)
NM_000091.5:c.2282G= (COL4A3) MANE Select NP_000082.2:p.Arg761=