Canonical Allele Identifier: CA258989
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374408
ClinVar RCV Id: RCV001877808
dbSNP Id: rs281874727

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681837C>T , CM000685.2:g.108681837C>T GRCh38
NC_000023.10:g.107925067C>T , CM000685.1:g.107925067C>T GRCh37
NC_000023.9:g.107811723C>T NCBI36
NG_011977.1:g.246914C>T
NG_011977.2:g.246914C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4165C>T MANE Select ENSP00000331902.7:p.Gln1389Ter
ENST00000361603.7:c.4147C>T ENSP00000354505.2:p.Gln1383Ter
ENST00000510690.2:n.659C>T
ENST00000328300.10:c.4165C>T ENSP00000331902.6:p.Gln1389Ter
ENST00000361603.6:c.4147C>T ENSP00000354505.2:p.Gln1383Ter
ENST00000489230.1:n.568C>T
NM_000495.4:c.4147C>T NP_000486.1:p.Gln1383Ter
NM_033380.2:c.4165C>T NP_203699.1:p.Gln1389Ter
XM_005262070.2:c.4156C>T XP_005262127.1:p.Gln1386Ter
XM_006724616.2:c.4165C>T XP_006724679.1:p.Gln1389Ter
XM_011530849.1:c.3841C>T XP_011529151.1:p.Gln1281Ter
XM_011530851.1:c.1738C>T XP_011529153.1:p.Gln580Ter
XM_011530849.2:c.4180C>T XP_011529151.2:p.Gln1394Ter
XM_017029259.2:c.4171C>T XP_016884748.1:p.Gln1391Ter
XM_017029260.1:c.4162C>T XP_016884749.1:p.Gln1388Ter
XM_017029263.2:c.2500C>T XP_016884752.1:p.Gln834Ter
NM_000495.5:c.4147C>T NP_000486.1:p.Gln1383Ter
NM_033380.3:c.4165C>T MANE Select NP_203699.1:p.Gln1389Ter