Canonical Allele Identifier: CA2118745077
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192237T= , CM000675.2:g.110192237T= GRCh38
NC_000013.10:g.110844584T= , CM000675.1:g.110844584T= GRCh37
NC_000013.9:g.109642585T= NCBI36
NG_011544.2:g.119913A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1513A= MANE Select ENSP00000364979.4:p.Arg505=
ENST00000543140.6:c.1513A= ENSP00000443348.1:p.Arg505=
ENST00000649738.1:n.1643A=
ENST00000375820.8:c.1513A= ENSP00000364979.4:p.Arg505=
ENST00000543140.5:c.1513A= ENSP00000443348.1:p.Arg505=
NM_001303110.1:c.1513A= NP_001290039.1:p.Arg505=
NM_001845.5:c.1513A= NP_001836.3:p.Arg505=
XM_011521048.1:c.1321A= XP_011519350.1:p.Arg441=
XM_011521048.2:c.1321A= XP_011519350.1:p.Arg441=
NM_001845.6:c.1513A= MANE Select NP_001836.3:p.Arg505=
NM_001303110.2:c.1513A= NP_001290039.1:p.Arg505=