Canonical Allele Identifier: CA1332863110

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311984T= , CM000664.2:g.227311984T=	GRCh38
NC_000002.11:g.228176700T= , CM000664.1:g.228176700T=	GRCh37
NC_000002.10:g.227884944T=	NCBI36
NG_011591.1:g.152420T= , LRG_230:g.152420T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2385T= (COL4A3)
ENST00000682257.1:n.349T= (COL4A3)
ENST00000682970.1:n.425T= (COL4A3)
ENST00000683077.1:n.2066T= (COL4A3)
ENST00000684413.1:n.2694T= (COL4A3)
ENST00000684724.1:n.548T= (COL4A3)
ENST00000396578.8:c.*114T= (COL4A3) MANE Select	ENSP00000379823.3:n.*114T=
ENST00000396578.7:c.*114T= (COL4A3)	ENSP00000379823.3:n.*114T=
NM_000091.4:c.*114T= , LRG_230t1:c.*114T= (COL4A3)	NP_000082.2:n.*114T=
NR_102371.1:n.48-6329A= (MFF-DT)
XM_005246276.2:c.*40T= (COL4A3)	XP_005246333.1:n.*40T=
XM_005246277.2:c.*114T= (COL4A3)	XP_005246334.1:n.*114T=
XM_011510556.1:c.*114T= (COL4A3)	XP_011508858.1:n.*114T=
XR_241280.2:n.5087T= (COL4A3)
XM_005246277.3:c.*114T= (COL4A3)	XP_005246334.1:n.*114T=
XM_011510556.2:c.*114T= (COL4A3)	XP_011508858.1:n.*114T=
XR_241280.3:n.5087T= (COL4A3)
NM_000091.5:c.*114T= (COL4A3) MANE Select	NP_000082.2:n.*114T=