Canonical Allele Identifier: CA1332863042

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311834A= , CM000664.2:g.227311834A=	GRCh38
NC_000002.11:g.228176550A= , CM000664.1:g.228176550A=	GRCh37
NC_000002.10:g.227884794A=	NCBI36
NG_011591.1:g.152270A= , LRG_230:g.152270A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2235A= (COL4A3)
ENST00000682257.1:n.199A= (COL4A3)
ENST00000682970.1:n.275A= (COL4A3)
ENST00000683077.1:n.1916A= (COL4A3)
ENST00000684413.1:n.2544A= (COL4A3)
ENST00000684724.1:n.398A= (COL4A3)
ENST00000396578.8:c.4977A= (COL4A3) MANE Select	ENSP00000379823.3:p.Ile1659=
ENST00000469504.2:c.770A= (COL4A3)	ENSP00000493493.1:n.770A=
ENST00000643388.1:c.490A= (COL4A3)	ENSP00000495177.1:p.Lys164=
ENST00000396578.7:c.4977A= (COL4A3)	ENSP00000379823.3:p.Ile1659=
ENST00000469504.1:n.485A= (COL4A3)
NM_000091.4:c.4977A= , LRG_230t1:c.4977A= (COL4A3)	NP_000082.2:p.Ile1659=
NR_102371.1:n.48-6179T= (MFF-DT)
XM_005246276.2:c.4804A= (COL4A3)	XP_005246333.1:p.Lys1602=
XM_005246277.2:c.4872A= (COL4A3)	XP_005246334.1:p.Ile1624=
XM_011510556.1:c.3738A= (COL4A3)	XP_011508858.1:p.Ile1246=
XR_241280.2:n.4937A= (COL4A3)
XM_005246277.3:c.4872A= (COL4A3)	XP_005246334.1:p.Ile1624=
XM_011510556.2:c.3738A= (COL4A3)	XP_011508858.1:p.Ile1246=
XR_241280.3:n.4937A= (COL4A3)
NM_000091.5:c.4977A= (COL4A3) MANE Select	NP_000082.2:p.Ile1659=