Canonical Allele Identifier: CA7048270

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205529C>T , CM000675.2:g.110205529C>T	GRCh38
NC_000013.10:g.110857876C>T , CM000675.1:g.110857876C>T	GRCh37
NC_000013.9:g.109655877C>T	NCBI36
NG_011544.2:g.106621G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.868G>A MANE Select	NP_001836.3:p.Gly290Arg
ENST00000375820.10:c.868G>A MANE Select	ENSP00000364979.4:p.Gly290Arg
NM_001303110.1:c.868G>A	NP_001290039.1:p.Gly290Arg
NM_001303110.2:c.868G>A	NP_001290039.1:p.Gly290Arg
NM_001845.5:c.868G>A	NP_001836.3:p.Gly290Arg
ENST00000375820.8:c.868G>A	ENSP00000364979.4:p.Gly290Arg
ENST00000543140.5:c.868G>A	ENSP00000443348.1:p.Gly290Arg
ENST00000543140.6:c.868G>A	ENSP00000443348.1:p.Gly290Arg
ENST00000615732.2:c.676G>A	ENSP00000478222.2:p.Gly226Arg
ENST00000647632.1:n.501G>A
ENST00000647797.1:c.747G>A
ENST00000649738.1:n.998G>A
XM_011521048.1:c.676G>A	XP_011519350.1:p.Gly226Arg
XM_011521048.2:c.676G>A	XP_011519350.1:p.Gly226Arg