Canonical Allele Identifier: CA350863884

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227305050G>T , CM000664.2:g.227305050G>T	GRCh38
NC_000002.11:g.228169766G>T , CM000664.1:g.228169766G>T	GRCh37
NC_000002.10:g.227878010G>T	NCBI36
NG_011591.1:g.145486G>T , LRG_230:g.145486G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4219G>T (COL4A3) MANE Select	NP_000082.2:p.Glu1407Ter
ENST00000396578.8:c.4219G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Glu1407Ter
NM_000091.4:c.4219G>T , LRG_230t1:c.4219G>T (COL4A3)	NP_000082.2:p.Glu1407Ter
NR_102371.1:n.243+410C>A (MFF-DT)
ENST00000396578.7:c.4219G>T (COL4A3)	ENSP00000379823.3:p.Glu1407Ter
ENST00000469504.2:c.190G>T (COL4A3)	ENSP00000493493.1:p.Glu64Ter
ENST00000471862.2:n.1477G>T (COL4A3)
ENST00000684413.1:n.686G>T (COL4A3)
XM_005246276.2:c.4219G>T (COL4A3)	XP_005246333.1:p.Glu1407Ter
XM_005246277.2:c.4114G>T (COL4A3)	XP_005246334.1:p.Glu1372Ter
XM_005246277.3:c.4114G>T (COL4A3)	XP_005246334.1:p.Glu1372Ter
XM_011510555.1:c.4219G>T (COL4A3)	XP_011508857.1:p.Glu1407Ter
XM_011510556.1:c.2980G>T (COL4A3)	XP_011508858.1:p.Glu994Ter
XM_011510556.2:c.2980G>T (COL4A3)	XP_011508858.1:p.Glu994Ter
XR_241280.2:n.4357G>T (COL4A3)
XR_241280.3:n.4357G>T (COL4A3)