Canonical Allele Identifier: CA350866687

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227310948G>A , CM000664.2:g.227310948G>A	GRCh38
NC_000002.11:g.228175664G>A , CM000664.1:g.228175664G>A	GRCh37
NC_000002.10:g.227883908G>A	NCBI36
NG_011591.1:g.151384G>A , LRG_230:g.151384G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4928G>A (COL4A3) MANE Select	NP_000082.2:p.Arg1643Lys
ENST00000396578.8:c.4928G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1643Lys
NM_000091.4:c.4928G>A , LRG_230t1:c.4928G>A (COL4A3)	NP_000082.2:p.Arg1643Lys
NR_102371.1:n.48-5293C>T (MFF-DT)
ENST00000396578.7:c.4928G>A (COL4A3)	ENSP00000379823.3:p.Arg1643Lys
ENST00000469504.1:n.436G>A (COL4A3)
ENST00000469504.2:c.721G>A (COL4A3)	ENSP00000493493.1:n.721G>A
ENST00000471862.2:n.2186G>A (COL4A3)
ENST00000643388.1:c.442-838G>A (COL4A3)	ENSP00000495177.1:n.442-838G>A
ENST00000682257.1:n.151-838G>A (COL4A3)
ENST00000682970.1:n.226G>A (COL4A3)
ENST00000683077.1:n.1867G>A (COL4A3)
ENST00000684413.1:n.2495G>A (COL4A3)
ENST00000684724.1:n.349G>A (COL4A3)
XM_005246276.2:c.4756-838G>A (COL4A3)	XP_005246333.1:n.4756-838G>A
XM_005246277.2:c.4823G>A (COL4A3)	XP_005246334.1:p.Arg1608Lys
XM_005246277.3:c.4823G>A (COL4A3)	XP_005246334.1:p.Arg1608Lys
XM_011510556.1:c.3689G>A (COL4A3)	XP_011508858.1:p.Arg1230Lys
XM_011510556.2:c.3689G>A (COL4A3)	XP_011508858.1:p.Arg1230Lys
XR_241280.2:n.4888G>A (COL4A3)
XR_241280.3:n.4888G>A (COL4A3)