Canonical Allele Identifier: CA1332863053

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311851G= , CM000664.2:g.227311851G=	GRCh38
NC_000002.11:g.228176567G= , CM000664.1:g.228176567G=	GRCh37
NC_000002.10:g.227884811G=	NCBI36
NG_011591.1:g.152287G= , LRG_230:g.152287G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2252G= (COL4A3)
ENST00000682257.1:n.216G= (COL4A3)
ENST00000682970.1:n.292G= (COL4A3)
ENST00000683077.1:n.1933G= (COL4A3)
ENST00000684413.1:n.2561G= (COL4A3)
ENST00000684724.1:n.415G= (COL4A3)
ENST00000396578.8:c.4994G= (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1665=
ENST00000469504.2:c.787G= (COL4A3)	ENSP00000493493.1:n.787G=
ENST00000643388.1:c.507G= (COL4A3)	ENSP00000495177.1:p.Val169=
ENST00000396578.7:c.4994G= (COL4A3)	ENSP00000379823.3:p.Cys1665=
ENST00000469504.1:n.502G= (COL4A3)
NM_000091.4:c.4994G= , LRG_230t1:c.4994G= (COL4A3)	NP_000082.2:p.Cys1665=
NR_102371.1:n.48-6196C= (MFF-DT)
XM_005246276.2:c.4821G= (COL4A3)	XP_005246333.1:p.Val1607=
XM_005246277.2:c.4889G= (COL4A3)	XP_005246334.1:p.Cys1630=
XM_011510556.1:c.3755G= (COL4A3)	XP_011508858.1:p.Cys1252=
XR_241280.2:n.4954G= (COL4A3)
XM_005246277.3:c.4889G= (COL4A3)	XP_005246334.1:p.Cys1630=
XM_011510556.2:c.3755G= (COL4A3)	XP_011508858.1:p.Cys1252=
XR_241280.3:n.4954G= (COL4A3)
NM_000091.5:c.4994G= (COL4A3) MANE Select	NP_000082.2:p.Cys1665=