Canonical Allele Identifier: CA2118734161

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170600G= , CM000675.2:g.110170600G=	GRCh38
NC_000013.10:g.110822947G= , CM000675.1:g.110822947G=	GRCh37
NC_000013.9:g.109620948G=	NCBI36
NG_011544.2:g.141550C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3689C= MANE Select	ENSP00000364979.4:p.Ala1230=
ENST00000375820.8:c.3689C=	ENSP00000364979.4:p.Ala1230=
NM_001845.5:c.3689C=	NP_001836.3:p.Ala1230=
XM_011521048.1:c.3497C=	XP_011519350.1:p.Ala1166=
XM_011521048.2:c.3497C=	XP_011519350.1:p.Ala1166=
NM_001845.6:c.3689C= MANE Select	NP_001836.3:p.Ala1230=