Canonical Allele Identifier: CA1332863083

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311918G= , CM000664.2:g.227311918G=	GRCh38
NC_000002.11:g.228176634G= , CM000664.1:g.228176634G=	GRCh37
NC_000002.10:g.227884878G=	NCBI36
NG_011591.1:g.152354G= , LRG_230:g.152354G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2319G= (COL4A3)
ENST00000682257.1:n.283G= (COL4A3)
ENST00000682970.1:n.359G= (COL4A3)
ENST00000683077.1:n.2000G= (COL4A3)
ENST00000684413.1:n.2628G= (COL4A3)
ENST00000684724.1:n.482G= (COL4A3)
ENST00000396578.8:c.*48G= (COL4A3) MANE Select	ENSP00000379823.3:n.*48G=
ENST00000643388.1:c.574G= (COL4A3)	ENSP00000495177.1:p.Val192=
ENST00000396578.7:c.*48G= (COL4A3)	ENSP00000379823.3:n.*48G=
NM_000091.4:c.*48G= , LRG_230t1:c.*48G= (COL4A3)	NP_000082.2:n.*48G=
NR_102371.1:n.48-6263C= (MFF-DT)
XM_005246276.2:c.4888G= (COL4A3)	XP_005246333.1:p.Val1630=
XM_005246277.2:c.*48G= (COL4A3)	XP_005246334.1:n.*48G=
XM_011510556.1:c.*48G= (COL4A3)	XP_011508858.1:n.*48G=
XR_241280.2:n.5021G= (COL4A3)
XM_005246277.3:c.*48G= (COL4A3)	XP_005246334.1:n.*48G=
XM_011510556.2:c.*48G= (COL4A3)	XP_011508858.1:n.*48G=
XR_241280.3:n.5021G= (COL4A3)
NM_000091.5:c.*48G= (COL4A3) MANE Select	NP_000082.2:n.*48G=