Canonical Allele Identifier: CA1332862028

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309224C= , CM000664.2:g.227309224C=	GRCh38
NC_000002.11:g.228173940C= , CM000664.1:g.228173940C=	GRCh37
NC_000002.10:g.227882184C=	NCBI36
NG_011591.1:g.149660C= , LRG_230:g.149660C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1919C= (COL4A3)
ENST00000682257.1:n.56C= (COL4A3)
ENST00000683077.1:n.143C= (COL4A3)
ENST00000684413.1:n.2228C= (COL4A3)
ENST00000684724.1:n.82C= (COL4A3)
ENST00000396578.8:c.4661C= (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1554=
ENST00000469504.2:c.454C= (COL4A3)	ENSP00000493493.1:p.Leu152=
ENST00000643388.1:c.347C= (COL4A3)	ENSP00000495177.1:p.Pro116=
ENST00000396578.7:c.4661C= (COL4A3)	ENSP00000379823.3:p.Pro1554=
ENST00000469504.1:n.169C= (COL4A3)
NM_000091.4:c.4661C= , LRG_230t1:c.4661C= (COL4A3)	NP_000082.2:p.Pro1554=
NR_102371.1:n.48-3569G= (MFF-DT)
XM_005246276.2:c.4661C= (COL4A3)	XP_005246333.1:p.Pro1554=
XM_005246277.2:c.4556C= (COL4A3)	XP_005246334.1:p.Pro1519=
XM_011510555.1:c.4661C= (COL4A3)	XP_011508857.1:p.Pro1554=
XM_011510556.1:c.3422C= (COL4A3)	XP_011508858.1:p.Pro1141=
XR_241280.2:n.4621C= (COL4A3)
XM_005246277.3:c.4556C= (COL4A3)	XP_005246334.1:p.Pro1519=
XM_011510556.2:c.3422C= (COL4A3)	XP_011508858.1:p.Pro1141=
XR_241280.3:n.4621C= (COL4A3)
NM_000091.5:c.4661C= (COL4A3) MANE Select	NP_000082.2:p.Pro1554=