Canonical Allele Identifier: CA2147654

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227310803G>A , CM000664.2:g.227310803G>A	GRCh38
NC_000002.11:g.228175519G>A , CM000664.1:g.228175519G>A	GRCh37
NC_000002.10:g.227883763G>A	NCBI36
NG_011591.1:g.151239G>A , LRG_230:g.151239G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4783G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1595Arg
ENST00000396578.8:c.4783G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1595Arg
NM_000091.4:c.4783G>A , LRG_230t1:c.4783G>A (COL4A3)	NP_000082.2:p.Gly1595Arg
NR_102371.1:n.48-5148C>T (MFF-DT)
ENST00000396578.7:c.4783G>A (COL4A3)	ENSP00000379823.3:p.Gly1595Arg
ENST00000469504.1:n.291G>A (COL4A3)
ENST00000469504.2:c.576G>A (COL4A3)	ENSP00000493493.1:n.576G>A
ENST00000471862.2:n.2041G>A (COL4A3)
ENST00000643388.1:c.442-983G>A (COL4A3)	ENSP00000495177.1:n.442-983G>A
ENST00000682257.1:n.151-983G>A (COL4A3)
ENST00000682970.1:n.81G>A (COL4A3)
ENST00000683077.1:n.1722G>A (COL4A3)
ENST00000684413.1:n.2350G>A (COL4A3)
ENST00000684724.1:n.204G>A (COL4A3)
XM_005246276.2:c.4756-983G>A (COL4A3)	XP_005246333.1:n.4756-983G>A
XM_005246277.2:c.4678G>A (COL4A3)	XP_005246334.1:p.Gly1560Arg
XM_005246277.3:c.4678G>A (COL4A3)	XP_005246334.1:p.Gly1560Arg
XM_011510555.1:c.4770G>A (COL4A3)	XP_011508857.1:p.Pro1590=
XM_011510556.1:c.3544G>A (COL4A3)	XP_011508858.1:p.Gly1182Arg
XM_011510556.2:c.3544G>A (COL4A3)	XP_011508858.1:p.Gly1182Arg
XR_241280.2:n.4743G>A (COL4A3)
XR_241280.3:n.4743G>A (COL4A3)