Canonical Allele Identifier: CA1332861876
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

dbSNP Id: rs892747767
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308841C>G , CM000664.2:g.227308841C>G GRCh38
NC_000002.11:g.228173557C>G , CM000664.1:g.228173557C>G GRCh37
NC_000002.10:g.227881801C>G NCBI36
NG_011591.1:g.149277C>G , LRG_230:g.149277C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000471862.2:n.1721-58C>G (COL4A3)
ENST00000684413.1:n.1845C>G (COL4A3)
ENST00000396578.8:c.4463-58C>G (COL4A3) MANE Select ENSP00000379823.3:n.4463-58C>G
ENST00000469504.2:c.434-363C>G (COL4A3) ENSP00000493493.1:n.434-363C>G
ENST00000643388.1:c.149-58C>G (COL4A3) ENSP00000495177.1:n.149-58C>G
ENST00000396578.7:c.4463-58C>G (COL4A3) ENSP00000379823.3:n.4463-58C>G
ENST00000469504.1:n.149-363C>G (COL4A3)
NM_000091.4:c.4463-58C>G , LRG_230t1:c.4463-58C>G (COL4A3) NP_000082.2:n.4463-58C>G
NR_102371.1:n.48-3186G>C (MFF-DT)
XM_005246276.2:c.4463-58C>G (COL4A3) XP_005246333.1:n.4463-58C>G
XM_005246277.2:c.4358-58C>G (COL4A3) XP_005246334.1:n.4358-58C>G
XM_011510555.1:c.4463-58C>G (COL4A3) XP_011508857.1:n.4463-58C>G
XM_011510556.1:c.3224-58C>G (COL4A3) XP_011508858.1:n.3224-58C>G
XR_241280.2:n.4601-363C>G (COL4A3)
XM_005246277.3:c.4358-58C>G (COL4A3) XP_005246334.1:n.4358-58C>G
XM_011510556.2:c.3224-58C>G (COL4A3) XP_011508858.1:n.3224-58C>G
XR_241280.3:n.4601-363C>G (COL4A3)
NM_000091.5:c.4463-58C>G (COL4A3) MANE Select NP_000082.2:n.4463-58C>G
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