Canonical Allele Identifier: CA2450722090
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696376T= , CM000685.2:g.108696376T= GRCh38
NC_000023.10:g.107939606T= , CM000685.1:g.107939606T= GRCh37
NC_000023.9:g.107826262T= NCBI36
NG_011977.1:g.261453T=
NG_011977.2:g.261453T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.5074T= MANE Select ENSP00000331902.7:p.Ter1692=
ENST00000361603.7:c.5056T= ENSP00000354505.2:p.Ter1686=
ENST00000510690.2:n.1568T=
ENST00000644079.1:n.2762T=
ENST00000328300.10:c.5074T= ENSP00000331902.6:p.Ter1692=
ENST00000361603.6:c.5056T= ENSP00000354505.2:p.Ter1686=
ENST00000504541.1:c.299T= ENSP00000424845.1:n.299T=
ENST00000515658.1:c.404T=
NM_000495.4:c.5056T= NP_000486.1:p.Ter1686=
NM_033380.2:c.5074T= NP_203699.1:p.Ter1692=
XM_005262070.2:c.5065T= XP_005262127.1:p.Ter1689=
XM_006724616.2:c.5074T= XP_006724679.1:p.Ter1692=
XM_011530849.1:c.4750T= XP_011529151.1:p.Ter1584=
XM_011530851.1:c.2647T= XP_011529153.1:p.Ter883=
XM_011530849.2:c.5089T= XP_011529151.2:p.Ter1697=
XM_017029259.2:c.5080T= XP_016884748.1:p.Ter1694=
XM_017029260.1:c.5071T= XP_016884749.1:p.Ter1691=
XM_017029263.2:c.3409T= XP_016884752.1:p.Ter1137=
NM_000495.5:c.5056T= NP_000486.1:p.Ter1686=
NM_033380.3:c.5074T= MANE Select NP_203699.1:p.Ter1692=