Canonical Allele Identifier: CA350866840

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1502877
• ClinVar RCV Id: RCV002045286
• dbSNP Id: rs2106298115
• MyVariant Identifiers: chr2:g.228176566T>A (hg19) ; chr2:g.227311850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311850T>A , CM000664.2:g.227311850T>A	GRCh38
NC_000002.11:g.228176566T>A , CM000664.1:g.228176566T>A	GRCh37
NC_000002.10:g.227884810T>A	NCBI36
NG_011591.1:g.152286T>A , LRG_230:g.152286T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2251T>A (COL4A3)
ENST00000682257.1:n.215T>A (COL4A3)
ENST00000682970.1:n.291T>A (COL4A3)
ENST00000683077.1:n.1932T>A (COL4A3)
ENST00000684413.1:n.2560T>A (COL4A3)
ENST00000684724.1:n.414T>A (COL4A3)
ENST00000396578.8:c.4993T>A (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1665Ser
ENST00000469504.2:c.786T>A (COL4A3)	ENSP00000493493.1:n.786T>A
ENST00000643388.1:c.506T>A (COL4A3)	ENSP00000495177.1:p.Val169Glu
ENST00000396578.7:c.4993T>A (COL4A3)	ENSP00000379823.3:p.Cys1665Ser
ENST00000469504.1:n.501T>A (COL4A3)
NM_000091.4:c.4993T>A , LRG_230t1:c.4993T>A (COL4A3)	NP_000082.2:p.Cys1665Ser
NR_102371.1:n.48-6195A>T (MFF-DT)
XM_005246276.2:c.4820T>A (COL4A3)	XP_005246333.1:p.Val1607Glu
XM_005246277.2:c.4888T>A (COL4A3)	XP_005246334.1:p.Cys1630Ser
XM_011510556.1:c.3754T>A (COL4A3)	XP_011508858.1:p.Cys1252Ser
XR_241280.2:n.4953T>A (COL4A3)
XM_005246277.3:c.4888T>A (COL4A3)	XP_005246334.1:p.Cys1630Ser
XM_011510556.2:c.3754T>A (COL4A3)	XP_011508858.1:p.Cys1252Ser
XR_241280.3:n.4953T>A (COL4A3)
NM_000091.5:c.4993T>A (COL4A3) MANE Select	NP_000082.2:p.Cys1665Ser