Canonical Allele Identifier: CA1332863114

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311990C= , CM000664.2:g.227311990C=	GRCh38
NC_000002.11:g.228176706C= , CM000664.1:g.228176706C=	GRCh37
NC_000002.10:g.227884950C=	NCBI36
NG_011591.1:g.152426C= , LRG_230:g.152426C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2391C= (COL4A3)
ENST00000682257.1:n.355C= (COL4A3)
ENST00000682970.1:n.431C= (COL4A3)
ENST00000683077.1:n.2072C= (COL4A3)
ENST00000684413.1:n.2700C= (COL4A3)
ENST00000684724.1:n.554C= (COL4A3)
ENST00000396578.8:c.*120C= (COL4A3) MANE Select	ENSP00000379823.3:n.*120C=
ENST00000396578.7:c.*120C= (COL4A3)	ENSP00000379823.3:n.*120C=
NM_000091.4:c.*120C= , LRG_230t1:c.*120C= (COL4A3)	NP_000082.2:n.*120C=
NR_102371.1:n.48-6335G= (MFF-DT)
XM_005246276.2:c.*46C= (COL4A3)	XP_005246333.1:n.*46C=
XM_005246277.2:c.*120C= (COL4A3)	XP_005246334.1:n.*120C=
XM_011510556.1:c.*120C= (COL4A3)	XP_011508858.1:n.*120C=
XR_241280.2:n.5093C= (COL4A3)
XM_005246277.3:c.*120C= (COL4A3)	XP_005246334.1:n.*120C=
XM_011510556.2:c.*120C= (COL4A3)	XP_011508858.1:n.*120C=
XR_241280.3:n.5093C= (COL4A3)
NM_000091.5:c.*120C= (COL4A3) MANE Select	NP_000082.2:n.*120C=