Canonical Allele Identifier: CA2118754573

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212604T= , CM000675.2:g.110212604T=	GRCh38
NC_000013.10:g.110864951T= , CM000675.1:g.110864951T=	GRCh37
NC_000013.9:g.109662952T=	NCBI36
NG_011544.2:g.99546A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.294A= MANE Select	ENSP00000364979.4:p.Ala98=
ENST00000543140.6:c.294A=	ENSP00000443348.1:p.Ala98=
ENST00000615732.2:c.102A=	ENSP00000478222.2:p.Ala34=
ENST00000647797.1:c.173A=
ENST00000648170.1:n.173A=
ENST00000648966.1:c.173A=
ENST00000649484.1:c.173A=
ENST00000649738.1:n.424A=
ENST00000375820.8:c.294A=	ENSP00000364979.4:p.Ala98=
ENST00000543140.5:c.294A=	ENSP00000443348.1:p.Ala98=
ENST00000615732.1:c.102A=	ENSP00000478222.1:p.Ala34=
NM_001303110.1:c.294A=	NP_001290039.1:p.Ala98=
NM_001845.5:c.294A=	NP_001836.3:p.Ala98=
XM_011521048.1:c.102A=	XP_011519350.1:p.Ala34=
XM_011521048.2:c.102A=	XP_011519350.1:p.Ala34=
NM_001845.6:c.294A= MANE Select	NP_001836.3:p.Ala98=
NM_001303110.2:c.294A=	NP_001290039.1:p.Ala98=