Canonical Allele Identifier: CA259138
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1443814
ClinVar RCV Id: RCV001955749
dbSNP Id: rs104886305

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695439G>A , CM000685.2:g.108695439G>A GRCh38
NC_000023.10:g.107938669G>A , CM000685.1:g.107938669G>A GRCh37
NC_000023.9:g.107825325G>A NCBI36
NG_011977.1:g.260516G>A
NG_011977.2:g.260516G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4994G>A MANE Select ENSP00000331902.7:p.Ser1665Asn
ENST00000361603.7:c.4976G>A ENSP00000354505.2:p.Ser1659Asn
ENST00000510690.2:n.1488G>A
ENST00000644079.1:n.1825G>A
ENST00000328300.10:c.4994G>A ENSP00000331902.6:p.Ser1665Asn
ENST00000361603.6:c.4976G>A ENSP00000354505.2:p.Ser1659Asn
ENST00000504541.1:c.219+518G>A ENSP00000424845.1:n.219+518G>A
ENST00000515658.1:c.325-858G>A
NM_000495.4:c.4976G>A NP_000486.1:p.Ser1659Asn
NM_033380.2:c.4994G>A NP_203699.1:p.Ser1665Asn
XM_005262070.2:c.4985G>A XP_005262127.1:p.Ser1662Asn
XM_006724616.2:c.4994G>A XP_006724679.1:p.Ser1665Asn
XM_011530849.1:c.4670G>A XP_011529151.1:p.Ser1557Asn
XM_011530851.1:c.2567G>A XP_011529153.1:p.Ser856Asn
XM_011530849.2:c.5009G>A XP_011529151.2:p.Ser1670Asn
XM_017029259.2:c.5000G>A XP_016884748.1:p.Ser1667Asn
XM_017029260.1:c.4991G>A XP_016884749.1:p.Ser1664Asn
XM_017029263.2:c.3329G>A XP_016884752.1:p.Ser1110Asn
NM_000495.5:c.4976G>A NP_000486.1:p.Ser1659Asn
NM_033380.3:c.4994G>A MANE Select NP_203699.1:p.Ser1665Asn