Canonical Allele Identifier: CA413845576
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1931318
ClinVar RCV Id: RCV002605489
dbSNP Id: rs1187210969

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108597563G>C , CM000685.2:g.108597563G>C GRCh38
NC_000023.10:g.107840793G>C , CM000685.1:g.107840793G>C GRCh37
NC_000023.9:g.107727449G>C NCBI36
NG_011977.1:g.162640G>C
NG_011977.2:g.162640G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1774G>C MANE Select ENSP00000331902.7:p.Glu592Gln
ENST00000361603.7:c.1774G>C ENSP00000354505.2:p.Glu592Gln
ENST00000328300.10:c.1774G>C ENSP00000331902.6:p.Glu592Gln
ENST00000361603.6:c.1774G>C ENSP00000354505.2:p.Glu592Gln
ENST00000483338.1:n.1230G>C
NM_000495.4:c.1774G>C NP_000486.1:p.Glu592Gln
NM_033380.2:c.1774G>C NP_203699.1:p.Glu592Gln
XM_005262070.2:c.1774G>C XP_005262127.1:p.Glu592Gln
XM_005262072.3:c.1774G>C XP_005262129.1:p.Glu592Gln
XM_006724616.2:c.1774G>C XP_006724679.1:p.Glu592Gln
XM_011530849.1:c.1450G>C XP_011529151.1:p.Glu484Gln
XM_011530850.1:c.1774G>C XP_011529152.1:p.Glu592Gln
XM_011530849.2:c.1789G>C XP_011529151.2:p.Glu597Gln
XM_017029259.2:c.1789G>C XP_016884748.1:p.Glu597Gln
XM_017029260.1:c.1789G>C XP_016884749.1:p.Glu597Gln
XM_017029261.1:c.1789G>C XP_016884750.1:p.Glu597Gln
XM_017029262.2:c.1789G>C XP_016884751.1:p.Glu597Gln
XM_017029263.2:c.109G>C XP_016884752.1:p.Glu37Gln
NM_000495.5:c.1774G>C NP_000486.1:p.Glu592Gln
NM_033380.3:c.1774G>C MANE Select NP_203699.1:p.Glu592Gln