Canonical Allele Identifier: CA1332861929
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308973T= , CM000664.2:g.227308973T= GRCh38
NC_000002.11:g.228173689T= , CM000664.1:g.228173689T= GRCh37
NC_000002.10:g.227881933T= NCBI36
NG_011591.1:g.149409T= , LRG_230:g.149409T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1795T= (COL4A3)
ENST00000683077.1:n.19T= (COL4A3)
ENST00000684413.1:n.1977T= (COL4A3)
ENST00000396578.8:c.4537T= (COL4A3) MANE Select ENSP00000379823.3:p.Phe1513=
ENST00000469504.2:c.434-231T= (COL4A3) ENSP00000493493.1:n.434-231T=
ENST00000643388.1:c.223T= (COL4A3) ENSP00000495177.1:p.Phe75=
ENST00000396578.7:c.4537T= (COL4A3) ENSP00000379823.3:p.Phe1513=
ENST00000469504.1:n.149-231T= (COL4A3)
NM_000091.4:c.4537T= , LRG_230t1:c.4537T= (COL4A3) NP_000082.2:p.Phe1513=
NR_102371.1:n.48-3318A= (MFF-DT)
XM_005246276.2:c.4537T= (COL4A3) XP_005246333.1:p.Phe1513=
XM_005246277.2:c.4432T= (COL4A3) XP_005246334.1:p.Phe1478=
XM_011510555.1:c.4537T= (COL4A3) XP_011508857.1:p.Phe1513=
XM_011510556.1:c.3298T= (COL4A3) XP_011508858.1:p.Phe1100=
XR_241280.2:n.4601-231T= (COL4A3)
XM_005246277.3:c.4432T= (COL4A3) XP_005246334.1:p.Phe1478=
XM_011510556.2:c.3298T= (COL4A3) XP_011508858.1:p.Phe1100=
XR_241280.3:n.4601-231T= (COL4A3)
NM_000091.5:c.4537T= (COL4A3) MANE Select NP_000082.2:p.Phe1513=