Canonical Allele Identifier: CA431663772
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.228173667C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308951C>T , CM000664.2:g.227308951C>T GRCh38
NC_000002.11:g.228173667C>T , CM000664.1:g.228173667C>T GRCh37
NC_000002.10:g.227881911C>T NCBI36
NG_011591.1:g.149387C>T , LRG_230:g.149387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1773C>T (COL4A3)
ENST00000684413.1:n.1955C>T (COL4A3)
ENST00000396578.8:c.4515C>T (COL4A3) MANE Select ENSP00000379823.3:p.Cys1505=
ENST00000469504.2:c.434-253C>T (COL4A3) ENSP00000493493.1:n.434-253C>T
ENST00000643388.1:c.201C>T (COL4A3) ENSP00000495177.1:p.Cys67=
ENST00000396578.7:c.4515C>T (COL4A3) ENSP00000379823.3:p.Cys1505=
ENST00000469504.1:n.149-253C>T (COL4A3)
NM_000091.4:c.4515C>T , LRG_230t1:c.4515C>T (COL4A3) NP_000082.2:p.Cys1505=
NR_102371.1:n.48-3296G>A (MFF-DT)
XM_005246276.2:c.4515C>T (COL4A3) XP_005246333.1:p.Cys1505=
XM_005246277.2:c.4410C>T (COL4A3) XP_005246334.1:p.Cys1470=
XM_011510555.1:c.4515C>T (COL4A3) XP_011508857.1:p.Cys1505=
XM_011510556.1:c.3276C>T (COL4A3) XP_011508858.1:p.Cys1092=
XR_241280.2:n.4601-253C>T (COL4A3)
XM_005246277.3:c.4410C>T (COL4A3) XP_005246334.1:p.Cys1470=
XM_011510556.2:c.3276C>T (COL4A3) XP_011508858.1:p.Cys1092=
XR_241280.3:n.4601-253C>T (COL4A3)
NM_000091.5:c.4515C>T (COL4A3) MANE Select NP_000082.2:p.Cys1505=