Canonical Allele Identifier: CA350860023

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 447172
• ClinVar RCV Id: RCV000518270 ; RCV002496993
• dbSNP Id: rs1553764136
• MyVariant Identifiers: chr2:g.228162444G>A (hg19) ; chr2:g.227297728G>A (hg38)
• PubMed: PMID:11134255

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227297728G>A , CM000664.2:g.227297728G>A	GRCh38
NC_000002.11:g.228162444G>A , CM000664.1:g.228162444G>A	GRCh37
NC_000002.10:g.227870688G>A	NCBI36
NG_011591.1:g.138164G>A , LRG_230:g.138164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.38G>A (COL4A3)
ENST00000396578.8:c.3620G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1207Glu
ENST00000396578.7:c.3620G>A (COL4A3)	ENSP00000379823.3:p.Gly1207Glu
ENST00000468753.5:n.283G>A (COL4A3)
ENST00000471862.1:n.38G>A (COL4A3)
NM_000091.4:c.3620G>A , LRG_230t1:c.3620G>A (COL4A3)	NP_000082.2:p.Gly1207Glu
NR_102371.1:n.243+7732C>T (MFF-DT)
XM_005246276.2:c.3620G>A (COL4A3)	XP_005246333.1:p.Gly1207Glu
XM_005246277.2:c.3515G>A (COL4A3)	XP_005246334.1:p.Gly1172Glu
XM_006712245.2:c.*90G>A (COL4A3)	XP_006712308.1:n.*90G>A
XM_011510555.1:c.3620G>A (COL4A3)	XP_011508857.1:p.Gly1207Glu
XM_011510556.1:c.2381G>A (COL4A3)	XP_011508858.1:p.Gly794Glu
XR_241280.2:n.3758G>A (COL4A3)
XM_005246277.3:c.3515G>A (COL4A3)	XP_005246334.1:p.Gly1172Glu
XM_011510556.2:c.2381G>A (COL4A3)	XP_011508858.1:p.Gly794Glu
XR_001738601.1:n.4968G>A (COL4A3)
XR_241280.3:n.3758G>A (COL4A3)
NM_000091.5:c.3620G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1207Glu