Canonical Allele Identifier: CA1332863048

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311842G= , CM000664.2:g.227311842G=	GRCh38
NC_000002.11:g.228176558G= , CM000664.1:g.228176558G=	GRCh37
NC_000002.10:g.227884802G=	NCBI36
NG_011591.1:g.152278G= , LRG_230:g.152278G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2243G= (COL4A3)
ENST00000682257.1:n.207G= (COL4A3)
ENST00000682970.1:n.283G= (COL4A3)
ENST00000683077.1:n.1924G= (COL4A3)
ENST00000684413.1:n.2552G= (COL4A3)
ENST00000684724.1:n.406G= (COL4A3)
ENST00000396578.8:c.4985G= (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1662=
ENST00000469504.2:c.778G= (COL4A3)	ENSP00000493493.1:n.778G=
ENST00000643388.1:c.498G= (COL4A3)	ENSP00000495177.1:p.Leu166=
ENST00000396578.7:c.4985G= (COL4A3)	ENSP00000379823.3:p.Cys1662=
ENST00000469504.1:n.493G= (COL4A3)
NM_000091.4:c.4985G= , LRG_230t1:c.4985G= (COL4A3)	NP_000082.2:p.Cys1662=
NR_102371.1:n.48-6187C= (MFF-DT)
XM_005246276.2:c.4812G= (COL4A3)	XP_005246333.1:p.Leu1604=
XM_005246277.2:c.4880G= (COL4A3)	XP_005246334.1:p.Cys1627=
XM_011510556.1:c.3746G= (COL4A3)	XP_011508858.1:p.Cys1249=
XR_241280.2:n.4945G= (COL4A3)
XM_005246277.3:c.4880G= (COL4A3)	XP_005246334.1:p.Cys1627=
XM_011510556.2:c.3746G= (COL4A3)	XP_011508858.1:p.Cys1249=
XR_241280.3:n.4945G= (COL4A3)
NM_000091.5:c.4985G= (COL4A3) MANE Select	NP_000082.2:p.Cys1662=