Canonical Allele Identifier: CA2450718759
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686061G= , CM000685.2:g.108686061G= GRCh38
NC_000023.10:g.107929291G= , CM000685.1:g.107929291G= GRCh37
NC_000023.9:g.107815947G= NCBI36
NG_011977.1:g.251138G=
NG_011977.2:g.251138G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4247G= MANE Select ENSP00000331902.7:p.Arg1416=
ENST00000361603.7:c.4229G= ENSP00000354505.2:p.Arg1410=
ENST00000510690.2:n.741G=
ENST00000328300.10:c.4247G= ENSP00000331902.6:p.Arg1416=
ENST00000361603.6:c.4229G= ENSP00000354505.2:p.Arg1410=
ENST00000489230.1:n.650G=
ENST00000515658.1:c.43G=
NM_000495.4:c.4229G= NP_000486.1:p.Arg1410=
NM_033380.2:c.4247G= NP_203699.1:p.Arg1416=
XM_005262070.2:c.4238G= XP_005262127.1:p.Arg1413=
XM_006724616.2:c.4247G= XP_006724679.1:p.Arg1416=
XM_011530849.1:c.3923G= XP_011529151.1:p.Arg1308=
XM_011530851.1:c.1820G= XP_011529153.1:p.Arg607=
XM_011530849.2:c.4262G= XP_011529151.2:p.Arg1421=
XM_017029259.2:c.4253G= XP_016884748.1:p.Arg1418=
XM_017029260.1:c.4244G= XP_016884749.1:p.Arg1415=
XM_017029263.2:c.2582G= XP_016884752.1:p.Arg861=
NM_000495.5:c.4229G= NP_000486.1:p.Arg1410=
NM_033380.3:c.4247G= MANE Select NP_203699.1:p.Arg1416=