Canonical Allele Identifier: CA484791519

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110206671T>C , CM000675.2:g.110206671T>C	GRCh38
NC_000013.10:g.110859018T>C , CM000675.1:g.110859018T>C	GRCh37
NC_000013.9:g.109657019T>C	NCBI36
NG_011544.2:g.105479A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.852A>G MANE Select	NP_001836.3:p.Gly284=
ENST00000375820.10:c.852A>G MANE Select	ENSP00000364979.4:p.Gly284=
NM_001303110.1:c.852A>G	NP_001290039.1:p.Gly284=
NM_001303110.2:c.852A>G	NP_001290039.1:p.Gly284=
NM_001845.5:c.852A>G	NP_001836.3:p.Gly284=
ENST00000375820.8:c.852A>G	ENSP00000364979.4:p.Gly284=
ENST00000543140.5:c.852A>G	ENSP00000443348.1:p.Gly284=
ENST00000543140.6:c.852A>G	ENSP00000443348.1:p.Gly284=
ENST00000615732.1:c.660A>G	ENSP00000478222.1:p.Gly220=
ENST00000615732.2:c.660A>G	ENSP00000478222.2:p.Gly220=
ENST00000647632.1:n.485A>G
ENST00000647797.1:c.731A>G
ENST00000649738.1:n.982A>G
XM_011521048.1:c.660A>G	XP_011519350.1:p.Gly220=
XM_011521048.2:c.660A>G	XP_011519350.1:p.Gly220=