Canonical Allele Identifier: CA1332863164
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312148T= , CM000664.2:g.227312148T= GRCh38
NC_000002.11:g.228176864T= , CM000664.1:g.228176864T= GRCh37
NC_000002.10:g.227885108T= NCBI36
NG_011591.1:g.152584T= , LRG_230:g.152584T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2549T= (COL4A3)
ENST00000682257.1:n.513T= (COL4A3)
ENST00000682970.1:n.589T= (COL4A3)
ENST00000683077.1:n.2230T= (COL4A3)
ENST00000684413.1:n.2858T= (COL4A3)
ENST00000684724.1:n.712T= (COL4A3)
ENST00000396578.8:c.*278T= (COL4A3) MANE Select ENSP00000379823.3:n.*278T=
ENST00000396578.7:c.*278T= (COL4A3) ENSP00000379823.3:n.*278T=
NM_000091.4:c.*278T= , LRG_230t1:c.*278T= (COL4A3) NP_000082.2:n.*278T=
NR_102371.1:n.48-6493A= (MFF-DT)
XM_005246276.2:c.*204T= (COL4A3) XP_005246333.1:n.*204T=
XM_005246277.2:c.*278T= (COL4A3) XP_005246334.1:n.*278T=
XM_011510556.1:c.*278T= (COL4A3) XP_011508858.1:n.*278T=
XR_241280.2:n.5251T= (COL4A3)
XM_005246277.3:c.*278T= (COL4A3) XP_005246334.1:n.*278T=
XM_011510556.2:c.*278T= (COL4A3) XP_011508858.1:n.*278T=
XR_241280.3:n.5251T= (COL4A3)
NM_000091.5:c.*278T= (COL4A3) MANE Select NP_000082.2:n.*278T=