Canonical Allele Identifier: CA388725479

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110210006C>A , CM000675.2:g.110210006C>A	GRCh38
NC_000013.10:g.110862353C>A , CM000675.1:g.110862353C>A	GRCh37
NC_000013.9:g.109660354C>A	NCBI36
NG_011544.2:g.102144G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.589G>T MANE Select	NP_001836.3:p.Gly197Trp
ENST00000375820.10:c.589G>T MANE Select	ENSP00000364979.4:p.Gly197Trp
NM_001303110.1:c.589G>T	NP_001290039.1:p.Gly197Trp
NM_001303110.2:c.589G>T	NP_001290039.1:p.Gly197Trp
NM_001845.5:c.589G>T	NP_001836.3:p.Gly197Trp
ENST00000375820.8:c.589G>T	ENSP00000364979.4:p.Gly197Trp
ENST00000543140.5:c.589G>T	ENSP00000443348.1:p.Gly197Trp
ENST00000543140.6:c.589G>T	ENSP00000443348.1:p.Gly197Trp
ENST00000615732.1:c.397G>T	ENSP00000478222.1:p.Gly133Trp
ENST00000615732.2:c.397G>T	ENSP00000478222.2:p.Gly133Trp
ENST00000647632.1:n.222G>T
ENST00000647797.1:c.468G>T
ENST00000648170.1:n.1157G>T
ENST00000648966.1:c.468G>T
ENST00000649484.1:c.554G>T
ENST00000649738.1:n.719G>T
XM_011521048.1:c.397G>T	XP_011519350.1:p.Gly133Trp
XM_011521048.2:c.397G>T	XP_011519350.1:p.Gly133Trp