Canonical Allele Identifier: CA2663418396

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 2806524
• ClinVar RCV Id: RCV003679809
• gnomAD v4: 2-227253559-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227253562dup , CM000664.2:g.227253562dup	GRCh38
NC_000002.11:g.228118278dup , CM000664.1:g.228118278dup	GRCh37
NC_000002.10:g.227826522dup	NCBI36
NG_011591.1:g.93998dup , LRG_230:g.93998dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.689dup (COL4A3)
ENST00000396578.7:c.689dup (COL4A3)
NM_000091.4:c.689dup , LRG_230t1:c.689dup (COL4A3)
NR_102371.1:n.1592+5618dup (MFF-DT)
XM_005246276.2:c.689dup (COL4A3)
XM_005246277.2:c.689dup (COL4A3)
XM_005246280.2:c.689dup (COL4A3)
XM_006712245.2:c.689dup (COL4A3)
XM_011510555.1:c.689dup (COL4A3)
XR_241280.2:n.827dup (COL4A3)
XM_005246277.3:c.689dup (COL4A3)
XM_005246280.3:c.689dup (COL4A3)
XM_006712245.3:c.689dup (COL4A3)
XM_017003295.1:c.689dup (COL4A3)
XR_001738601.1:n.827dup (COL4A3)
XR_241280.3:n.827dup (COL4A3)
NM_000091.5:c.689dup (COL4A3)