Canonical Allele Identifier: CA1332863129
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312047A= , CM000664.2:g.227312047A= GRCh38
NC_000002.11:g.228176763A= , CM000664.1:g.228176763A= GRCh37
NC_000002.10:g.227885007A= NCBI36
NG_011591.1:g.152483A= , LRG_230:g.152483A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2448A= (COL4A3)
ENST00000682257.1:n.412A= (COL4A3)
ENST00000682970.1:n.488A= (COL4A3)
ENST00000683077.1:n.2129A= (COL4A3)
ENST00000684413.1:n.2757A= (COL4A3)
ENST00000684724.1:n.611A= (COL4A3)
ENST00000396578.8:c.*177A= (COL4A3) MANE Select ENSP00000379823.3:n.*177A=
ENST00000396578.7:c.*177A= (COL4A3) ENSP00000379823.3:n.*177A=
NM_000091.4:c.*177A= , LRG_230t1:c.*177A= (COL4A3) NP_000082.2:n.*177A=
NR_102371.1:n.48-6392T= (MFF-DT)
XM_005246276.2:c.*103A= (COL4A3) XP_005246333.1:n.*103A=
XM_005246277.2:c.*177A= (COL4A3) XP_005246334.1:n.*177A=
XM_011510556.1:c.*177A= (COL4A3) XP_011508858.1:n.*177A=
XR_241280.2:n.5150A= (COL4A3)
XM_005246277.3:c.*177A= (COL4A3) XP_005246334.1:n.*177A=
XM_011510556.2:c.*177A= (COL4A3) XP_011508858.1:n.*177A=
XR_241280.3:n.5150A= (COL4A3)
NM_000091.5:c.*177A= (COL4A3) MANE Select NP_000082.2:n.*177A=