Canonical Allele Identifier: CA1332863050

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311844C= , CM000664.2:g.227311844C=	GRCh38
NC_000002.11:g.228176560C= , CM000664.1:g.228176560C=	GRCh37
NC_000002.10:g.227884804C=	NCBI36
NG_011591.1:g.152280C= , LRG_230:g.152280C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2245C= (COL4A3)
ENST00000682257.1:n.209C= (COL4A3)
ENST00000682970.1:n.285C= (COL4A3)
ENST00000683077.1:n.1926C= (COL4A3)
ENST00000684413.1:n.2554C= (COL4A3)
ENST00000684724.1:n.408C= (COL4A3)
ENST00000396578.8:c.4987C= (COL4A3) MANE Select	ENSP00000379823.3:p.Gln1663=
ENST00000469504.2:c.780C= (COL4A3)	ENSP00000493493.1:n.780C=
ENST00000643388.1:c.500C= (COL4A3)	ENSP00000495177.1:p.Ser167=
ENST00000396578.7:c.4987C= (COL4A3)	ENSP00000379823.3:p.Gln1663=
ENST00000469504.1:n.495C= (COL4A3)
NM_000091.4:c.4987C= , LRG_230t1:c.4987C= (COL4A3)	NP_000082.2:p.Gln1663=
NR_102371.1:n.48-6189G= (MFF-DT)
XM_005246276.2:c.4814C= (COL4A3)	XP_005246333.1:p.Ser1605=
XM_005246277.2:c.4882C= (COL4A3)	XP_005246334.1:p.Gln1628=
XM_011510556.1:c.3748C= (COL4A3)	XP_011508858.1:p.Gln1250=
XR_241280.2:n.4947C= (COL4A3)
XM_005246277.3:c.4882C= (COL4A3)	XP_005246334.1:p.Gln1628=
XM_011510556.2:c.3748C= (COL4A3)	XP_011508858.1:p.Gln1250=
XR_241280.3:n.4947C= (COL4A3)
NM_000091.5:c.4987C= (COL4A3) MANE Select	NP_000082.2:p.Gln1663=