Canonical Allele Identifier: CA1332861455
Community Standard Title: NM_000091.5(COL4A3):c.4382C= (p.Pro1461=)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227307839C= , CM000664.2:g.227307839C= GRCh38
NC_000002.11:g.228172555C= , CM000664.1:g.228172555C= GRCh37
NC_000002.10:g.227880799C= NCBI36
NG_011591.1:g.148275C= , LRG_230:g.148275C=

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.4382C= (COL4A3) MANE Select NP_000082.2:p.Pro1461=
ENST00000396578.8:c.4382C= (COL4A3) MANE Select ENSP00000379823.3:p.Pro1461=
NM_000091.4:c.4382C= , LRG_230t1:c.4382C= (COL4A3) NP_000082.2:p.Pro1461=
NR_102371.1:n.48-2184G= (MFF-DT)
ENST00000396578.7:c.4382C= (COL4A3) ENSP00000379823.3:p.Pro1461=
ENST00000469504.1:n.68C= (COL4A3)
ENST00000469504.2:c.353C= (COL4A3) ENSP00000493493.1:p.Pro118=
ENST00000471862.2:n.1640C= (COL4A3)
ENST00000643388.1:c.68C= (COL4A3) ENSP00000495177.1:p.Pro23=
ENST00000684413.1:n.843C= (COL4A3)
XM_005246276.2:c.4382C= (COL4A3) XP_005246333.1:p.Pro1461=
XM_005246277.2:c.4277C= (COL4A3) XP_005246334.1:p.Pro1426=
XM_005246277.3:c.4277C= (COL4A3) XP_005246334.1:p.Pro1426=
XM_011510555.1:c.4382C= (COL4A3) XP_011508857.1:p.Pro1461=
XM_011510556.1:c.3143C= (COL4A3) XP_011508858.1:p.Pro1048=
XM_011510556.2:c.3143C= (COL4A3) XP_011508858.1:p.Pro1048=
XR_241280.2:n.4520C= (COL4A3)
XR_241280.3:n.4520C= (COL4A3)