Canonical Allele Identifier: CA2147131
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 522454
dbSNP Id: rs55849096

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227290876C>G , CM000664.2:g.227290876C>G GRCh38
NC_000002.11:g.228155592C>G , CM000664.1:g.228155592C>G GRCh37
NC_000002.10:g.227863836C>G NCBI36
NG_011591.1:g.131312C>G , LRG_230:g.131312C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.3200C>G (COL4A3) MANE Select ENSP00000379823.3:p.Pro1067Arg
ENST00000304990.8:c.311C>G (COL4A3) ENSP00000302781.8:p.Pro104Arg
ENST00000396578.7:c.3200C>G (COL4A3) ENSP00000379823.3:p.Pro1067Arg
ENST00000487633.1:n.361C>G (COL4A3)
NM_000091.4:c.3200C>G , LRG_230t1:c.3200C>G (COL4A3) NP_000082.2:p.Pro1067Arg
NR_102371.1:n.244-9087G>C (MFF-DT)
XM_005246276.2:c.3200C>G (COL4A3) XP_005246333.1:p.Pro1067Arg
XM_005246277.2:c.3095C>G (COL4A3) XP_005246334.1:p.Pro1032Arg
XM_005246280.2:c.3133+67C>G (COL4A3) XP_005246337.1:n.3133+67C>G
XM_006712245.2:c.3200C>G (COL4A3) XP_006712308.1:p.Pro1067Arg
XM_011510555.1:c.3200C>G (COL4A3) XP_011508857.1:p.Pro1067Arg
XM_011510556.1:c.1961C>G (COL4A3) XP_011508858.1:p.Pro654Arg
XR_241280.2:n.3338C>G (COL4A3)
XM_005246277.3:c.3095C>G (COL4A3) XP_005246334.1:p.Pro1032Arg
XM_005246280.3:c.3133+67C>G (COL4A3) XP_005246337.1:n.3133+67C>G
XM_006712245.3:c.3200C>G (COL4A3) XP_006712308.1:p.Pro1067Arg
XM_011510556.2:c.1961C>G (COL4A3) XP_011508858.1:p.Pro654Arg
XM_017003295.1:c.3200C>G (COL4A3) XP_016858784.1:p.Pro1067Arg
XR_001738601.1:n.3338C>G (COL4A3)
XR_241280.3:n.3338C>G (COL4A3)
NM_000091.5:c.3200C>G (COL4A3) MANE Select NP_000082.2:p.Pro1067Arg