Canonical Allele Identifier: CA66610387

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227297717G>A , CM000664.2:g.227297717G>A	GRCh38
NC_000002.11:g.228162433G>A , CM000664.1:g.228162433G>A	GRCh37
NC_000002.10:g.227870677G>A	NCBI36
NG_011591.1:g.138153G>A , LRG_230:g.138153G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3609G>A (COL4A3) MANE Select	NP_000082.2:p.Pro1203=
ENST00000396578.8:c.3609G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1203=
NM_000091.4:c.3609G>A , LRG_230t1:c.3609G>A (COL4A3)	NP_000082.2:p.Pro1203=
NR_102371.1:n.243+7743C>T (MFF-DT)
ENST00000396578.7:c.3609G>A (COL4A3)	ENSP00000379823.3:p.Pro1203=
ENST00000468753.5:n.272G>A (COL4A3)
ENST00000471862.1:n.27G>A (COL4A3)
ENST00000471862.2:n.27G>A (COL4A3)
XM_005246276.2:c.3609G>A (COL4A3)	XP_005246333.1:p.Pro1203=
XM_005246277.2:c.3504G>A (COL4A3)	XP_005246334.1:p.Pro1168=
XM_005246277.3:c.3504G>A (COL4A3)	XP_005246334.1:p.Pro1168=
XM_006712245.2:c.*79G>A (COL4A3)	XP_006712308.1:n.*79G>A
XM_006712245.3:c.*79G>A (COL4A3)	XP_006712308.1:n.*79G>A
XM_011510555.1:c.3609G>A (COL4A3)	XP_011508857.1:p.Pro1203=
XM_011510556.1:c.2370G>A (COL4A3)	XP_011508858.1:p.Pro790=
XM_011510556.2:c.2370G>A (COL4A3)	XP_011508858.1:p.Pro790=
XR_001738601.1:n.4957G>A (COL4A3)
XR_241280.2:n.3747G>A (COL4A3)
XR_241280.3:n.3747G>A (COL4A3)