Canonical Allele Identifier: CA2147565
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 334785
dbSNP Id: rs200454769

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308930C>G , CM000664.2:g.227308930C>G GRCh38
NC_000002.11:g.228173646C>G , CM000664.1:g.228173646C>G GRCh37
NC_000002.10:g.227881890C>G NCBI36
NG_011591.1:g.149366C>G , LRG_230:g.149366C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1752C>G (COL4A3)
ENST00000684413.1:n.1934C>G (COL4A3)
ENST00000396578.8:c.4494C>G (COL4A3) MANE Select ENSP00000379823.3:p.Thr1498=
ENST00000469504.2:c.434-274C>G (COL4A3) ENSP00000493493.1:n.434-274C>G
ENST00000643388.1:c.180C>G (COL4A3) ENSP00000495177.1:p.Thr60=
ENST00000396578.7:c.4494C>G (COL4A3) ENSP00000379823.3:p.Thr1498=
ENST00000469504.1:n.149-274C>G (COL4A3)
NM_000091.4:c.4494C>G , LRG_230t1:c.4494C>G (COL4A3) NP_000082.2:p.Thr1498=
NR_102371.1:n.48-3275G>C (MFF-DT)
XM_005246276.2:c.4494C>G (COL4A3) XP_005246333.1:p.Thr1498=
XM_005246277.2:c.4389C>G (COL4A3) XP_005246334.1:p.Thr1463=
XM_011510555.1:c.4494C>G (COL4A3) XP_011508857.1:p.Thr1498=
XM_011510556.1:c.3255C>G (COL4A3) XP_011508858.1:p.Thr1085=
XR_241280.2:n.4601-274C>G (COL4A3)
XM_005246277.3:c.4389C>G (COL4A3) XP_005246334.1:p.Thr1463=
XM_011510556.2:c.3255C>G (COL4A3) XP_011508858.1:p.Thr1085=
XR_241280.3:n.4601-274C>G (COL4A3)
NM_000091.5:c.4494C>G (COL4A3) MANE Select NP_000082.2:p.Thr1498=