Canonical Allele Identifier: CA1332854839
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227290786G= , CM000664.2:g.227290786G= GRCh38
NC_000002.11:g.228155502G= , CM000664.1:g.228155502G= GRCh37
NC_000002.10:g.227863746G= NCBI36
NG_011591.1:g.131222G= , LRG_230:g.131222G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.3110G= (COL4A3) MANE Select ENSP00000379823.3:p.Arg1037=
ENST00000304990.8:c.221G= (COL4A3) ENSP00000302781.8:p.Arg74=
ENST00000396578.7:c.3110G= (COL4A3) ENSP00000379823.3:p.Arg1037=
ENST00000487633.1:n.271G= (COL4A3)
NM_000091.4:c.3110G= , LRG_230t1:c.3110G= (COL4A3) NP_000082.2:p.Arg1037=
NR_102371.1:n.244-8997C= (MFF-DT)
XM_005246276.2:c.3110G= (COL4A3) XP_005246333.1:p.Arg1037=
XM_005246277.2:c.3005G= (COL4A3) XP_005246334.1:p.Arg1002=
XM_005246280.2:c.3110G= (COL4A3) XP_005246337.1:p.Arg1037=
XM_006712245.2:c.3110G= (COL4A3) XP_006712308.1:p.Arg1037=
XM_011510555.1:c.3110G= (COL4A3) XP_011508857.1:p.Arg1037=
XM_011510556.1:c.1871G= (COL4A3) XP_011508858.1:p.Arg624=
XR_241280.2:n.3248G= (COL4A3)
XM_005246277.3:c.3005G= (COL4A3) XP_005246334.1:p.Arg1002=
XM_005246280.3:c.3110G= (COL4A3) XP_005246337.1:p.Arg1037=
XM_006712245.3:c.3110G= (COL4A3) XP_006712308.1:p.Arg1037=
XM_011510556.2:c.1871G= (COL4A3) XP_011508858.1:p.Arg624=
XM_017003295.1:c.3110G= (COL4A3) XP_016858784.1:p.Arg1037=
XR_001738601.1:n.3248G= (COL4A3)
XR_241280.3:n.3248G= (COL4A3)
NM_000091.5:c.3110G= (COL4A3) MANE Select NP_000082.2:p.Arg1037=