Canonical Allele Identifier: CA2147561
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 334784
dbSNP Id: rs181952966

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308918G>A , CM000664.2:g.227308918G>A GRCh38
NC_000002.11:g.228173634G>A , CM000664.1:g.228173634G>A GRCh37
NC_000002.10:g.227881878G>A NCBI36
NG_011591.1:g.149354G>A , LRG_230:g.149354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1740G>A (COL4A3)
ENST00000684413.1:n.1922G>A (COL4A3)
ENST00000396578.8:c.4482G>A (COL4A3) MANE Select ENSP00000379823.3:p.Leu1494=
ENST00000469504.2:c.434-286G>A (COL4A3) ENSP00000493493.1:n.434-286G>A
ENST00000643388.1:c.168G>A (COL4A3) ENSP00000495177.1:p.Leu56=
ENST00000396578.7:c.4482G>A (COL4A3) ENSP00000379823.3:p.Leu1494=
ENST00000469504.1:n.149-286G>A (COL4A3)
NM_000091.4:c.4482G>A , LRG_230t1:c.4482G>A (COL4A3) NP_000082.2:p.Leu1494=
NR_102371.1:n.48-3263C>T (MFF-DT)
XM_005246276.2:c.4482G>A (COL4A3) XP_005246333.1:p.Leu1494=
XM_005246277.2:c.4377G>A (COL4A3) XP_005246334.1:p.Leu1459=
XM_011510555.1:c.4482G>A (COL4A3) XP_011508857.1:p.Leu1494=
XM_011510556.1:c.3243G>A (COL4A3) XP_011508858.1:p.Leu1081=
XR_241280.2:n.4601-286G>A (COL4A3)
XM_005246277.3:c.4377G>A (COL4A3) XP_005246334.1:p.Leu1459=
XM_011510556.2:c.3243G>A (COL4A3) XP_011508858.1:p.Leu1081=
XR_241280.3:n.4601-286G>A (COL4A3)
NM_000091.5:c.4482G>A (COL4A3) MANE Select NP_000082.2:p.Leu1494=