Canonical Allele Identifier: CA2118732821

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169731A= , CM000675.2:g.110169731A=	GRCh38
NC_000013.10:g.110822078A= , CM000675.1:g.110822078A=	GRCh37
NC_000013.9:g.109620079A=	NCBI36
NG_011544.2:g.142419T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3774T= MANE Select	ENSP00000364979.4:p.Leu1258=
ENST00000375820.8:c.3774T=	ENSP00000364979.4:p.Leu1258=
NM_001845.5:c.3774T=	NP_001836.3:p.Leu1258=
XM_011521048.1:c.3582T=	XP_011519350.1:p.Leu1194=
XM_011521048.2:c.3582T=	XP_011519350.1:p.Leu1194=
NM_001845.6:c.3774T= MANE Select	NP_001836.3:p.Leu1258=