Canonical Allele Identifier: CA388723524

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192857C>T , CM000675.2:g.110192857C>T	GRCh38
NC_000013.10:g.110845204C>T , CM000675.1:g.110845204C>T	GRCh37
NC_000013.9:g.109643205C>T	NCBI36
NG_011544.2:g.119293G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.1438G>A MANE Select	NP_001836.3:p.Gly480Arg
ENST00000375820.10:c.1438G>A MANE Select	ENSP00000364979.4:p.Gly480Arg
NM_001303110.1:c.1438G>A	NP_001290039.1:p.Gly480Arg
NM_001303110.2:c.1438G>A	NP_001290039.1:p.Gly480Arg
NM_001845.5:c.1438G>A	NP_001836.3:p.Gly480Arg
ENST00000375820.8:c.1438G>A	ENSP00000364979.4:p.Gly480Arg
ENST00000543140.5:c.1438G>A	ENSP00000443348.1:p.Gly480Arg
ENST00000543140.6:c.1438G>A	ENSP00000443348.1:p.Gly480Arg
ENST00000649738.1:n.1568G>A
XM_011521048.1:c.1246G>A	XP_011519350.1:p.Gly416Arg
XM_011521048.2:c.1246G>A	XP_011519350.1:p.Gly416Arg