Canonical Allele Identifier: CA2450719204
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687488G= , CM000685.2:g.108687488G= GRCh38
NC_000023.10:g.107930718G= , CM000685.1:g.107930718G= GRCh37
NC_000023.9:g.107817374G= NCBI36
NG_011977.1:g.252565G=
NG_011977.2:g.252565G=

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4322G= MANE Select ENSP00000331902.7:p.Arg1441=
ENST00000361603.7:c.4304G= ENSP00000354505.2:p.Arg1435=
ENST00000510690.2:n.816G=
ENST00000328300.10:c.4322G= ENSP00000331902.6:p.Arg1441=
ENST00000361603.6:c.4304G= ENSP00000354505.2:p.Arg1435=
ENST00000489230.1:n.725G=
ENST00000515658.1:c.118G=
NM_000495.4:c.4304G= NP_000486.1:p.Arg1435=
NM_033380.2:c.4322G= NP_203699.1:p.Arg1441=
XM_005262070.2:c.4313G= XP_005262127.1:p.Arg1438=
XM_006724616.2:c.4322G= XP_006724679.1:p.Arg1441=
XM_011530849.1:c.3998G= XP_011529151.1:p.Arg1333=
XM_011530851.1:c.1895G= XP_011529153.1:p.Arg632=
XM_011530849.2:c.4337G= XP_011529151.2:p.Arg1446=
XM_017029259.2:c.4328G= XP_016884748.1:p.Arg1443=
XM_017029260.1:c.4319G= XP_016884749.1:p.Arg1440=
XM_017029263.2:c.2657G= XP_016884752.1:p.Arg886=
NM_000495.5:c.4304G= NP_000486.1:p.Arg1435=
NM_033380.3:c.4322G= MANE Select NP_203699.1:p.Arg1441=