Canonical Allele Identifier: CA2118751259

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205367G= , CM000675.2:g.110205367G=	GRCh38
NC_000013.10:g.110857714G= , CM000675.1:g.110857714G=	GRCh37
NC_000013.9:g.109655715G=	NCBI36
NG_011544.2:g.106783C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.943C= MANE Select	NP_001836.3:p.Arg315=
ENST00000375820.10:c.943C= MANE Select	ENSP00000364979.4:p.Arg315=
NM_001303110.1:c.943C=	NP_001290039.1:p.Arg315=
NM_001303110.2:c.943C=	NP_001290039.1:p.Arg315=
NM_001845.5:c.943C=	NP_001836.3:p.Arg315=
ENST00000375820.8:c.943C=	ENSP00000364979.4:p.Arg315=
ENST00000543140.5:c.943C=	ENSP00000443348.1:p.Arg315=
ENST00000543140.6:c.943C=	ENSP00000443348.1:p.Arg315=
ENST00000647632.1:n.576C=
ENST00000647797.1:c.822C=
ENST00000649738.1:n.1073C=
XM_011521048.1:c.751C=	XP_011519350.1:p.Arg251=
XM_011521048.2:c.751C=	XP_011519350.1:p.Arg251=