Canonical Allele Identifier: CA127228

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 17489
• ClinVar RCV Id: RCV000019041 ; RCV001281227
• dbSNP Id: rs121912826
• MyVariant Identifiers: chr2:g.228154778G>A (hg19) ; chr2:g.227290062G>A (hg38)
• PubMed: PMID:11961012

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290062G>A , CM000664.2:g.227290062G>A	GRCh38
NC_000002.11:g.228154778G>A , CM000664.1:g.228154778G>A	GRCh37
NC_000002.10:g.227863022G>A	NCBI36
NG_011591.1:g.130498G>A , LRG_230:g.130498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.3044G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1015Glu
ENST00000304990.8:c.155G>A (COL4A3)	ENSP00000302781.8:p.Gly52Glu
ENST00000396578.7:c.3044G>A (COL4A3)	ENSP00000379823.3:p.Gly1015Glu
ENST00000487633.1:n.205G>A (COL4A3)
NM_000091.4:c.3044G>A , LRG_230t1:c.3044G>A (COL4A3)	NP_000082.2:p.Gly1015Glu
NR_102371.1:n.244-8273C>T (MFF-DT)
XM_005246276.2:c.3044G>A (COL4A3)	XP_005246333.1:p.Gly1015Glu
XM_005246277.2:c.2939G>A (COL4A3)	XP_005246334.1:p.Gly980Glu
XM_005246280.2:c.3044G>A (COL4A3)	XP_005246337.1:p.Gly1015Glu
XM_006712245.2:c.3044G>A (COL4A3)	XP_006712308.1:p.Gly1015Glu
XM_011510555.1:c.3044G>A (COL4A3)	XP_011508857.1:p.Gly1015Glu
XM_011510556.1:c.1805G>A (COL4A3)	XP_011508858.1:p.Gly602Glu
XR_241280.2:n.3182G>A (COL4A3)
XM_005246277.3:c.2939G>A (COL4A3)	XP_005246334.1:p.Gly980Glu
XM_005246280.3:c.3044G>A (COL4A3)	XP_005246337.1:p.Gly1015Glu
XM_006712245.3:c.3044G>A (COL4A3)	XP_006712308.1:p.Gly1015Glu
XM_011510556.2:c.1805G>A (COL4A3)	XP_011508858.1:p.Gly602Glu
XM_017003295.1:c.3044G>A (COL4A3)	XP_016858784.1:p.Gly1015Glu
XR_001738601.1:n.3182G>A (COL4A3)
XR_241280.3:n.3182G>A (COL4A3)
NM_000091.5:c.3044G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1015Glu