Canonical Allele Identifier: CA350865778

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309295T>C , CM000664.2:g.227309295T>C	GRCh38
NC_000002.11:g.228174011T>C , CM000664.1:g.228174011T>C	GRCh37
NC_000002.10:g.227882255T>C	NCBI36
NG_011591.1:g.149731T>C , LRG_230:g.149731T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4732T>C (COL4A3) MANE Select	NP_000082.2:p.Trp1578Arg
ENST00000396578.8:c.4732T>C (COL4A3) MANE Select	ENSP00000379823.3:p.Trp1578Arg
NM_000091.4:c.4732T>C , LRG_230t1:c.4732T>C (COL4A3)	NP_000082.2:p.Trp1578Arg
NR_102371.1:n.48-3640A>G (MFF-DT)
ENST00000396578.7:c.4732T>C (COL4A3)	ENSP00000379823.3:p.Trp1578Arg
ENST00000469504.1:n.240T>C (COL4A3)
ENST00000469504.2:c.525T>C (COL4A3)	ENSP00000493493.1:n.525T>C
ENST00000471862.2:n.1990T>C (COL4A3)
ENST00000643388.1:c.418T>C (COL4A3)	ENSP00000495177.1:p.Trp140Arg
ENST00000682257.1:n.127T>C (COL4A3)
ENST00000682970.1:n.43T>C (COL4A3)
ENST00000683077.1:n.214T>C (COL4A3)
ENST00000684413.1:n.2299T>C (COL4A3)
ENST00000684724.1:n.153T>C (COL4A3)
XM_005246276.2:c.4732T>C (COL4A3)	XP_005246333.1:p.Trp1578Arg
XM_005246277.2:c.4627T>C (COL4A3)	XP_005246334.1:p.Trp1543Arg
XM_005246277.3:c.4627T>C (COL4A3)	XP_005246334.1:p.Trp1543Arg
XM_011510555.1:c.4732T>C (COL4A3)	XP_011508857.1:p.Trp1578Arg
XM_011510556.1:c.3493T>C (COL4A3)	XP_011508858.1:p.Trp1165Arg
XM_011510556.2:c.3493T>C (COL4A3)	XP_011508858.1:p.Trp1165Arg
XR_241280.2:n.4692T>C (COL4A3)
XR_241280.3:n.4692T>C (COL4A3)