Canonical Allele Identifier: CA350866817
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2417048
ClinVar RCV Id: RCV003111876
gnomAD v4: 2-227311839-G-C
MyVariant Identifiers: chr2:g.228176555G>C (hg19) chr2:g.227311839G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227311839G>C , CM000664.2:g.227311839G>C GRCh38
NC_000002.11:g.228176555G>C , CM000664.1:g.228176555G>C GRCh37
NC_000002.10:g.227884799G>C NCBI36
NG_011591.1:g.152275G>C , LRG_230:g.152275G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000471862.2:n.2240G>C (COL4A3)
ENST00000682257.1:n.204G>C (COL4A3)
ENST00000682970.1:n.280G>C (COL4A3)
ENST00000683077.1:n.1921G>C (COL4A3)
ENST00000684413.1:n.2549G>C (COL4A3)
ENST00000684724.1:n.403G>C (COL4A3)
ENST00000396578.8:c.4982G>C (COL4A3) MANE Select ENSP00000379823.3:p.Arg1661Pro
ENST00000469504.2:c.775G>C (COL4A3) ENSP00000493493.1:n.775G>C
ENST00000643388.1:c.495G>C (COL4A3) ENSP00000495177.1:p.Ser165=
ENST00000396578.7:c.4982G>C (COL4A3) ENSP00000379823.3:p.Arg1661Pro
ENST00000469504.1:n.490G>C (COL4A3)
NM_000091.4:c.4982G>C , LRG_230t1:c.4982G>C (COL4A3) NP_000082.2:p.Arg1661Pro
NR_102371.1:n.48-6184C>G (MFF-DT)
XM_005246276.2:c.4809G>C (COL4A3) XP_005246333.1:p.Ser1603=
XM_005246277.2:c.4877G>C (COL4A3) XP_005246334.1:p.Arg1626Pro
XM_011510556.1:c.3743G>C (COL4A3) XP_011508858.1:p.Arg1248Pro
XR_241280.2:n.4942G>C (COL4A3)
XM_005246277.3:c.4877G>C (COL4A3) XP_005246334.1:p.Arg1626Pro
XM_011510556.2:c.3743G>C (COL4A3) XP_011508858.1:p.Arg1248Pro
XR_241280.3:n.4942G>C (COL4A3)
NM_000091.5:c.4982G>C (COL4A3) MANE Select NP_000082.2:p.Arg1661Pro
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