Canonical Allele Identifier: CA1332863125

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312041T= , CM000664.2:g.227312041T=	GRCh38
NC_000002.11:g.228176757T= , CM000664.1:g.228176757T=	GRCh37
NC_000002.10:g.227885001T=	NCBI36
NG_011591.1:g.152477T= , LRG_230:g.152477T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2442T= (COL4A3)
ENST00000682257.1:n.406T= (COL4A3)
ENST00000682970.1:n.482T= (COL4A3)
ENST00000683077.1:n.2123T= (COL4A3)
ENST00000684413.1:n.2751T= (COL4A3)
ENST00000684724.1:n.605T= (COL4A3)
ENST00000396578.8:c.*171T= (COL4A3) MANE Select	ENSP00000379823.3:n.*171T=
ENST00000396578.7:c.*171T= (COL4A3)	ENSP00000379823.3:n.*171T=
NM_000091.4:c.*171T= , LRG_230t1:c.*171T= (COL4A3)	NP_000082.2:n.*171T=
NR_102371.1:n.48-6386A= (MFF-DT)
XM_005246276.2:c.*97T= (COL4A3)	XP_005246333.1:n.*97T=
XM_005246277.2:c.*171T= (COL4A3)	XP_005246334.1:n.*171T=
XM_011510556.1:c.*171T= (COL4A3)	XP_011508858.1:n.*171T=
XR_241280.2:n.5144T= (COL4A3)
XM_005246277.3:c.*171T= (COL4A3)	XP_005246334.1:n.*171T=
XM_011510556.2:c.*171T= (COL4A3)	XP_011508858.1:n.*171T=
XR_241280.3:n.5144T= (COL4A3)
NM_000091.5:c.*171T= (COL4A3) MANE Select	NP_000082.2:n.*171T=