Canonical Allele Identifier: CA431508950

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227307843G>A , CM000664.2:g.227307843G>A	GRCh38
NC_000002.11:g.228172559G>A , CM000664.1:g.228172559G>A	GRCh37
NC_000002.10:g.227880803G>A	NCBI36
NG_011591.1:g.148279G>A , LRG_230:g.148279G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4386G>A (COL4A3) MANE Select	NP_000082.2:p.Glu1462=
ENST00000396578.8:c.4386G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Glu1462=
NM_000091.4:c.4386G>A , LRG_230t1:c.4386G>A (COL4A3)	NP_000082.2:p.Glu1462=
NR_102371.1:n.48-2188C>T (MFF-DT)
ENST00000396578.7:c.4386G>A (COL4A3)	ENSP00000379823.3:p.Glu1462=
ENST00000469504.1:n.72G>A (COL4A3)
ENST00000469504.2:c.357G>A (COL4A3)	ENSP00000493493.1:p.Glu119=
ENST00000471862.2:n.1644G>A (COL4A3)
ENST00000643388.1:c.72G>A (COL4A3)	ENSP00000495177.1:p.Glu24=
ENST00000684413.1:n.847G>A (COL4A3)
XM_005246276.2:c.4386G>A (COL4A3)	XP_005246333.1:p.Glu1462=
XM_005246277.2:c.4281G>A (COL4A3)	XP_005246334.1:p.Glu1427=
XM_005246277.3:c.4281G>A (COL4A3)	XP_005246334.1:p.Glu1427=
XM_011510555.1:c.4386G>A (COL4A3)	XP_011508857.1:p.Glu1462=
XM_011510556.1:c.3147G>A (COL4A3)	XP_011508858.1:p.Glu1049=
XM_011510556.2:c.3147G>A (COL4A3)	XP_011508858.1:p.Glu1049=
XR_241280.2:n.4524G>A (COL4A3)
XR_241280.3:n.4524G>A (COL4A3)