Canonical Allele Identifier: CA350865745

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309285G>A , CM000664.2:g.227309285G>A	GRCh38
NC_000002.11:g.228174001G>A , CM000664.1:g.228174001G>A	GRCh37
NC_000002.10:g.227882245G>A	NCBI36
NG_011591.1:g.149721G>A , LRG_230:g.149721G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4722G>A (COL4A3) MANE Select	NP_000082.2:p.Trp1574Ter
ENST00000396578.8:c.4722G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Trp1574Ter
NM_000091.4:c.4722G>A , LRG_230t1:c.4722G>A (COL4A3)	NP_000082.2:p.Trp1574Ter
NR_102371.1:n.48-3630C>T (MFF-DT)
ENST00000396578.7:c.4722G>A (COL4A3)	ENSP00000379823.3:p.Trp1574Ter
ENST00000469504.1:n.230G>A (COL4A3)
ENST00000469504.2:c.515G>A (COL4A3)	ENSP00000493493.1:n.515G>A
ENST00000471862.2:n.1980G>A (COL4A3)
ENST00000643388.1:c.408G>A (COL4A3)	ENSP00000495177.1:p.Trp136Ter
ENST00000682257.1:n.117G>A (COL4A3)
ENST00000682970.1:n.33G>A (COL4A3)
ENST00000683077.1:n.204G>A (COL4A3)
ENST00000684413.1:n.2289G>A (COL4A3)
ENST00000684724.1:n.143G>A (COL4A3)
XM_005246276.2:c.4722G>A (COL4A3)	XP_005246333.1:p.Trp1574Ter
XM_005246277.2:c.4617G>A (COL4A3)	XP_005246334.1:p.Trp1539Ter
XM_005246277.3:c.4617G>A (COL4A3)	XP_005246334.1:p.Trp1539Ter
XM_011510555.1:c.4722G>A (COL4A3)	XP_011508857.1:p.Trp1574Ter
XM_011510556.1:c.3483G>A (COL4A3)	XP_011508858.1:p.Trp1161Ter
XM_011510556.2:c.3483G>A (COL4A3)	XP_011508858.1:p.Trp1161Ter
XR_241280.2:n.4682G>A (COL4A3)
XR_241280.3:n.4682G>A (COL4A3)