Canonical Allele Identifier: CA2450716903
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680905G= , CM000685.2:g.108680905G= GRCh38
NC_000023.10:g.107924135G= , CM000685.1:g.107924135G= GRCh37
NC_000023.9:g.107810791G= NCBI36
NG_011977.1:g.245982G=
NG_011977.2:g.245982G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4036G= MANE Select ENSP00000331902.7:p.Val1346=
ENST00000361603.7:c.4018G= ENSP00000354505.2:p.Val1340=
ENST00000510690.2:n.530G=
ENST00000328300.10:c.4036G= ENSP00000331902.6:p.Val1346=
ENST00000361603.6:c.4018G= ENSP00000354505.2:p.Val1340=
ENST00000489230.1:n.439G=
NM_000495.4:c.4018G= NP_000486.1:p.Val1340=
NM_033380.2:c.4036G= NP_203699.1:p.Val1346=
XM_005262070.2:c.4027G= XP_005262127.1:p.Val1343=
XM_006724616.2:c.4036G= XP_006724679.1:p.Val1346=
XM_011530849.1:c.3712G= XP_011529151.1:p.Val1238=
XM_011530851.1:c.1609G= XP_011529153.1:p.Val537=
XM_011530849.2:c.4051G= XP_011529151.2:p.Val1351=
XM_017029259.2:c.4042G= XP_016884748.1:p.Val1348=
XM_017029260.1:c.4033G= XP_016884749.1:p.Val1345=
XM_017029263.2:c.2371G= XP_016884752.1:p.Val791=
NM_000495.5:c.4018G= NP_000486.1:p.Val1340=
NM_033380.3:c.4036G= MANE Select NP_203699.1:p.Val1346=