Canonical Allele Identifier: CA388724167

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110198607C>T , CM000675.2:g.110198607C>T	GRCh38
NC_000013.10:g.110850954C>T , CM000675.1:g.110850954C>T	GRCh37
NC_000013.9:g.109648955C>T	NCBI36
NG_011544.2:g.113543G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.1145G>A MANE Select	NP_001836.3:p.Gly382Asp
ENST00000375820.10:c.1145G>A MANE Select	ENSP00000364979.4:p.Gly382Asp
NM_001303110.1:c.1145G>A	NP_001290039.1:p.Gly382Asp
NM_001303110.2:c.1145G>A	NP_001290039.1:p.Gly382Asp
NM_001845.5:c.1145G>A	NP_001836.3:p.Gly382Asp
ENST00000375820.8:c.1145G>A	ENSP00000364979.4:p.Gly382Asp
ENST00000543140.5:c.1145G>A	ENSP00000443348.1:p.Gly382Asp
ENST00000543140.6:c.1145G>A	ENSP00000443348.1:p.Gly382Asp
ENST00000647797.1:c.1024G>A
ENST00000649738.1:n.1275G>A
XM_011521048.1:c.953G>A	XP_011519350.1:p.Gly318Asp
XM_011521048.2:c.953G>A	XP_011519350.1:p.Gly318Asp