Canonical Allele Identifier: CA388724988

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110206881C>T , CM000675.2:g.110206881C>T	GRCh38
NC_000013.10:g.110859228C>T , CM000675.1:g.110859228C>T	GRCh37
NC_000013.9:g.109657229C>T	NCBI36
NG_011544.2:g.105269G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.791G>A MANE Select	NP_001836.3:p.Gly264Asp
ENST00000375820.10:c.791G>A MANE Select	ENSP00000364979.4:p.Gly264Asp
NM_001303110.1:c.791G>A	NP_001290039.1:p.Gly264Asp
NM_001303110.2:c.791G>A	NP_001290039.1:p.Gly264Asp
NM_001845.5:c.791G>A	NP_001836.3:p.Gly264Asp
ENST00000375820.8:c.791G>A	ENSP00000364979.4:p.Gly264Asp
ENST00000543140.5:c.791G>A	ENSP00000443348.1:p.Gly264Asp
ENST00000543140.6:c.791G>A	ENSP00000443348.1:p.Gly264Asp
ENST00000615732.1:c.599G>A	ENSP00000478222.1:p.Gly200Asp
ENST00000615732.2:c.599G>A	ENSP00000478222.2:p.Gly200Asp
ENST00000647632.1:n.424G>A
ENST00000647797.1:c.670G>A
ENST00000649738.1:n.921G>A
XM_011521048.1:c.599G>A	XP_011519350.1:p.Gly200Asp
XM_011521048.2:c.599G>A	XP_011519350.1:p.Gly200Asp