Canonical Allele Identifier: CA2118751264

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205385A= , CM000675.2:g.110205385A=	GRCh38
NC_000013.10:g.110857732A= , CM000675.1:g.110857732A=	GRCh37
NC_000013.9:g.109655733A=	NCBI36
NG_011544.2:g.106765T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.925T= MANE Select	ENSP00000364979.4:p.Tyr309=
ENST00000543140.6:c.925T=	ENSP00000443348.1:p.Tyr309=
ENST00000647632.1:n.558T=
ENST00000647797.1:c.804T=
ENST00000649738.1:n.1055T=
ENST00000375820.8:c.925T=	ENSP00000364979.4:p.Tyr309=
ENST00000543140.5:c.925T=	ENSP00000443348.1:p.Tyr309=
NM_001303110.1:c.925T=	NP_001290039.1:p.Tyr309=
NM_001845.5:c.925T=	NP_001836.3:p.Tyr309=
XM_011521048.1:c.733T=	XP_011519350.1:p.Tyr245=
XM_011521048.2:c.733T=	XP_011519350.1:p.Tyr245=
NM_001845.6:c.925T= MANE Select	NP_001836.3:p.Tyr309=
NM_001303110.2:c.925T=	NP_001290039.1:p.Tyr309=