Canonical Allele Identifier: CA2450716906
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680909C= , CM000685.2:g.108680909C= GRCh38
NC_000023.10:g.107924139C= , CM000685.1:g.107924139C= GRCh37
NC_000023.9:g.107810795C= NCBI36
NG_011977.1:g.245986C=
NG_011977.2:g.245986C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4040C= MANE Select ENSP00000331902.7:p.Pro1347=
ENST00000361603.7:c.4022C= ENSP00000354505.2:p.Pro1341=
ENST00000510690.2:n.534C=
ENST00000328300.10:c.4040C= ENSP00000331902.6:p.Pro1347=
ENST00000361603.6:c.4022C= ENSP00000354505.2:p.Pro1341=
ENST00000489230.1:n.443C=
NM_000495.4:c.4022C= NP_000486.1:p.Pro1341=
NM_033380.2:c.4040C= NP_203699.1:p.Pro1347=
XM_005262070.2:c.4031C= XP_005262127.1:p.Pro1344=
XM_006724616.2:c.4040C= XP_006724679.1:p.Pro1347=
XM_011530849.1:c.3716C= XP_011529151.1:p.Pro1239=
XM_011530851.1:c.1613C= XP_011529153.1:p.Pro538=
XM_011530849.2:c.4055C= XP_011529151.2:p.Pro1352=
XM_017029259.2:c.4046C= XP_016884748.1:p.Pro1349=
XM_017029260.1:c.4037C= XP_016884749.1:p.Pro1346=
XM_017029263.2:c.2375C= XP_016884752.1:p.Pro792=
NM_000495.5:c.4022C= NP_000486.1:p.Pro1341=
NM_033380.3:c.4040C= MANE Select NP_203699.1:p.Pro1347=