Canonical Allele Identifier: CA2118745090

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192261T= , CM000675.2:g.110192261T=	GRCh38
NC_000013.10:g.110844608T= , CM000675.1:g.110844608T=	GRCh37
NC_000013.9:g.109642609T=	NCBI36
NG_011544.2:g.119889A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1489A= MANE Select	ENSP00000364979.4:p.Lys497=
ENST00000543140.6:c.1489A=	ENSP00000443348.1:p.Lys497=
ENST00000649738.1:n.1619A=
ENST00000375820.8:c.1489A=	ENSP00000364979.4:p.Lys497=
ENST00000543140.5:c.1489A=	ENSP00000443348.1:p.Lys497=
NM_001303110.1:c.1489A=	NP_001290039.1:p.Lys497=
NM_001845.5:c.1489A=	NP_001836.3:p.Lys497=
XM_011521048.1:c.1297A=	XP_011519350.1:p.Lys433=
XM_011521048.2:c.1297A=	XP_011519350.1:p.Lys433=
NM_001845.6:c.1489A= MANE Select	NP_001836.3:p.Lys497=
NM_001303110.2:c.1489A=	NP_001290039.1:p.Lys497=