Canonical Allele Identifier: CA1332863055

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311854T= , CM000664.2:g.227311854T=	GRCh38
NC_000002.11:g.228176570T= , CM000664.1:g.228176570T=	GRCh37
NC_000002.10:g.227884814T=	NCBI36
NG_011591.1:g.152290T= , LRG_230:g.152290T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2255T= (COL4A3)
ENST00000682257.1:n.219T= (COL4A3)
ENST00000682970.1:n.295T= (COL4A3)
ENST00000683077.1:n.1936T= (COL4A3)
ENST00000684413.1:n.2564T= (COL4A3)
ENST00000684724.1:n.418T= (COL4A3)
ENST00000396578.8:c.4997T= (COL4A3) MANE Select	ENSP00000379823.3:p.Met1666=
ENST00000469504.2:c.790T= (COL4A3)	ENSP00000493493.1:n.790T=
ENST00000643388.1:c.510T= (COL4A3)	ENSP00000495177.1:p.His170=
ENST00000396578.7:c.4997T= (COL4A3)	ENSP00000379823.3:p.Met1666=
ENST00000469504.1:n.505T= (COL4A3)
NM_000091.4:c.4997T= , LRG_230t1:c.4997T= (COL4A3)	NP_000082.2:p.Met1666=
NR_102371.1:n.48-6199A= (MFF-DT)
XM_005246276.2:c.4824T= (COL4A3)	XP_005246333.1:p.His1608=
XM_005246277.2:c.4892T= (COL4A3)	XP_005246334.1:p.Met1631=
XM_011510556.1:c.3758T= (COL4A3)	XP_011508858.1:p.Met1253=
XR_241280.2:n.4957T= (COL4A3)
XM_005246277.3:c.4892T= (COL4A3)	XP_005246334.1:p.Met1631=
XM_011510556.2:c.3758T= (COL4A3)	XP_011508858.1:p.Met1253=
XR_241280.3:n.4957T= (COL4A3)
NM_000091.5:c.4997T= (COL4A3) MANE Select	NP_000082.2:p.Met1666=