Canonical Allele Identifier: CA1332861926
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308959A= , CM000664.2:g.227308959A= GRCh38
NC_000002.11:g.228173675A= , CM000664.1:g.228173675A= GRCh37
NC_000002.10:g.227881919A= NCBI36
NG_011591.1:g.149395A= , LRG_230:g.149395A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1781A= (COL4A3)
ENST00000683077.1:n.5A= (COL4A3)
ENST00000684413.1:n.1963A= (COL4A3)
ENST00000396578.8:c.4523A= (COL4A3) MANE Select ENSP00000379823.3:p.Asn1508=
ENST00000469504.2:c.434-245A= (COL4A3) ENSP00000493493.1:n.434-245A=
ENST00000643388.1:c.209A= (COL4A3) ENSP00000495177.1:p.Asn70=
ENST00000396578.7:c.4523A= (COL4A3) ENSP00000379823.3:p.Asn1508=
ENST00000469504.1:n.149-245A= (COL4A3)
NM_000091.4:c.4523A= , LRG_230t1:c.4523A= (COL4A3) NP_000082.2:p.Asn1508=
NR_102371.1:n.48-3304T= (MFF-DT)
XM_005246276.2:c.4523A= (COL4A3) XP_005246333.1:p.Asn1508=
XM_005246277.2:c.4418A= (COL4A3) XP_005246334.1:p.Asn1473=
XM_011510555.1:c.4523A= (COL4A3) XP_011508857.1:p.Asn1508=
XM_011510556.1:c.3284A= (COL4A3) XP_011508858.1:p.Asn1095=
XR_241280.2:n.4601-245A= (COL4A3)
XM_005246277.3:c.4418A= (COL4A3) XP_005246334.1:p.Asn1473=
XM_011510556.2:c.3284A= (COL4A3) XP_011508858.1:p.Asn1095=
XR_241280.3:n.4601-245A= (COL4A3)
NM_000091.5:c.4523A= (COL4A3) MANE Select NP_000082.2:p.Asn1508=