Canonical Allele Identifier: CA1332835388
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227246719T= , CM000664.2:g.227246719T= GRCh38
NC_000002.11:g.228111435T= , CM000664.1:g.228111435T= GRCh37
NC_000002.10:g.227819679T= NCBI36
NG_011591.1:g.87155T= , LRG_230:g.87155T=

Transcript Alleles

HGVS Amino-acid change
ENST00000396578.8:c.422T= (COL4A3) MANE Select ENSP00000379823.3:p.Leu141=
ENST00000396578.7:c.422T= (COL4A3) ENSP00000379823.3:p.Leu141=
NM_000091.4:c.422T= , LRG_230t1:c.422T= (COL4A3) NP_000082.2:p.Leu141=
NR_102371.1:n.1593-8545A= (MFF-DT)
XM_005246276.2:c.422T= (COL4A3) XP_005246333.1:p.Leu141=
XM_005246277.2:c.422T= (COL4A3) XP_005246334.1:p.Leu141=
XM_005246280.2:c.422T= (COL4A3) XP_005246337.1:p.Leu141=
XM_006712245.2:c.422T= (COL4A3) XP_006712308.1:p.Leu141=
XM_011510555.1:c.422T= (COL4A3) XP_011508857.1:p.Leu141=
XR_241280.2:n.560T= (COL4A3)
XM_005246277.3:c.422T= (COL4A3) XP_005246334.1:p.Leu141=
XM_005246280.3:c.422T= (COL4A3) XP_005246337.1:p.Leu141=
XM_006712245.3:c.422T= (COL4A3) XP_006712308.1:p.Leu141=
XM_017003295.1:c.422T= (COL4A3) XP_016858784.1:p.Leu141=
XR_001738601.1:n.560T= (COL4A3)
XR_241280.3:n.560T= (COL4A3)
NM_000091.5:c.422T= (COL4A3) MANE Select NP_000082.2:p.Leu141=