Canonical Allele Identifier: CA1332862027

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309221G= , CM000664.2:g.227309221G=	GRCh38
NC_000002.11:g.228173937G= , CM000664.1:g.228173937G=	GRCh37
NC_000002.10:g.227882181G=	NCBI36
NG_011591.1:g.149657G= , LRG_230:g.149657G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1916G= (COL4A3)
ENST00000682257.1:n.53G= (COL4A3)
ENST00000683077.1:n.140G= (COL4A3)
ENST00000684413.1:n.2225G= (COL4A3)
ENST00000684724.1:n.79G= (COL4A3)
ENST00000396578.8:c.4658G= (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1553=
ENST00000469504.2:c.451G= (COL4A3)	ENSP00000493493.1:p.Val151=
ENST00000643388.1:c.344G= (COL4A3)	ENSP00000495177.1:p.Gly115=
ENST00000396578.7:c.4658G= (COL4A3)	ENSP00000379823.3:p.Gly1553=
ENST00000469504.1:n.166G= (COL4A3)
NM_000091.4:c.4658G= , LRG_230t1:c.4658G= (COL4A3)	NP_000082.2:p.Gly1553=
NR_102371.1:n.48-3566C= (MFF-DT)
XM_005246276.2:c.4658G= (COL4A3)	XP_005246333.1:p.Gly1553=
XM_005246277.2:c.4553G= (COL4A3)	XP_005246334.1:p.Gly1518=
XM_011510555.1:c.4658G= (COL4A3)	XP_011508857.1:p.Gly1553=
XM_011510556.1:c.3419G= (COL4A3)	XP_011508858.1:p.Gly1140=
XR_241280.2:n.4618G= (COL4A3)
XM_005246277.3:c.4553G= (COL4A3)	XP_005246334.1:p.Gly1518=
XM_011510556.2:c.3419G= (COL4A3)	XP_011508858.1:p.Gly1140=
XR_241280.3:n.4618G= (COL4A3)
NM_000091.5:c.4658G= (COL4A3) MANE Select	NP_000082.2:p.Gly1553=