Canonical Allele Identifier: CA2450722073
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696340C= , CM000685.2:g.108696340C= GRCh38
NC_000023.10:g.107939570C= , CM000685.1:g.107939570C= GRCh37
NC_000023.9:g.107826226C= NCBI36
NG_011977.1:g.261417C=
NG_011977.2:g.261417C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.5038C= MANE Select ENSP00000331902.7:p.Arg1680=
ENST00000361603.7:c.5020C= ENSP00000354505.2:p.Arg1674=
ENST00000510690.2:n.1532C=
ENST00000644079.1:n.2726C=
ENST00000328300.10:c.5038C= ENSP00000331902.6:p.Arg1680=
ENST00000361603.6:c.5020C= ENSP00000354505.2:p.Arg1674=
ENST00000504541.1:c.263C= ENSP00000424845.1:n.263C=
ENST00000515658.1:c.368C=
NM_000495.4:c.5020C= NP_000486.1:p.Arg1674=
NM_033380.2:c.5038C= NP_203699.1:p.Arg1680=
XM_005262070.2:c.5029C= XP_005262127.1:p.Arg1677=
XM_006724616.2:c.5038C= XP_006724679.1:p.Arg1680=
XM_011530849.1:c.4714C= XP_011529151.1:p.Arg1572=
XM_011530851.1:c.2611C= XP_011529153.1:p.Arg871=
XM_011530849.2:c.5053C= XP_011529151.2:p.Arg1685=
XM_017029259.2:c.5044C= XP_016884748.1:p.Arg1682=
XM_017029260.1:c.5035C= XP_016884749.1:p.Arg1679=
XM_017029263.2:c.3373C= XP_016884752.1:p.Arg1125=
NM_000495.5:c.5020C= NP_000486.1:p.Arg1674=
NM_033380.3:c.5038C= MANE Select NP_203699.1:p.Arg1680=