Canonical Allele Identifier: CA259040
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24734
ClinVar RCV Id: RCV000021613
dbSNP Id: rs104886279

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687526G>A , CM000685.2:g.108687526G>A GRCh38
NC_000023.10:g.107930756G>A , CM000685.1:g.107930756G>A GRCh37
NC_000023.9:g.107817412G>A NCBI36
NG_011977.1:g.252603G>A

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.4342G>A VV NP_000486.1:p.Gly1448Ser
NM_033380.2:c.4360G>A VV NP_203699.1:p.Gly1454Ser
XM_005262070.2:c.4351G>A XP_005262127.1:p.Gly1451Ser
XM_006724616.2:c.4360G>A XP_006724679.1:p.Gly1454Ser
XM_011530849.1:c.4036G>A XP_011529151.1:p.Gly1346Ser
XM_011530851.1:c.1933G>A XP_011529153.1:p.Gly645Ser
XM_011530849.2:c.4375G>A XP_011529151.2:p.Gly1459Ser
XM_017029259.2:c.4366G>A XP_016884748.1:p.Gly1456Ser
XM_017029260.1:c.4357G>A XP_016884749.1:p.Gly1453Ser
XM_017029263.2:c.2695G>A XP_016884752.1:p.Gly899Ser
ENST00000328300.10:c.4360G>A ENSP00000331902.6:p.Gly1454Ser
ENST00000361603.6:c.4342G>A ENSP00000354505.2:p.Gly1448Ser
ENST00000515658.1:n.156G>A