Canonical Allele Identifier: CA258707
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24536
ClinVar RCV Id: RCV000021415
dbSNP Id: rs104886186

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620303G>A , CM000685.2:g.108620303G>A GRCh38
NC_000023.10:g.107863533G>A , CM000685.1:g.107863533G>A GRCh37
NC_000023.9:g.107750189G>A NCBI36
NG_011977.1:g.185380G>A
NG_011977.2:g.185380G>A

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.2554G>A VV NP_000486.1:p.Gly852Arg
NM_033380.2:c.2554G>A VV NP_203699.1:p.Gly852Arg
XM_005262070.2:c.2554G>A XP_005262127.1:p.Gly852Arg
XM_005262072.3:c.2554G>A XP_005262129.1:p.Gly852Arg
XM_006724616.2:c.2554G>A XP_006724679.1:p.Gly852Arg
XM_011530849.1:c.2230G>A XP_011529151.1:p.Gly744Arg
XM_011530850.1:c.2554G>A XP_011529152.1:p.Gly852Arg
XM_011530851.1:c.127G>A XP_011529153.1:p.Gly43Arg
XM_011530849.2:c.2569G>A XP_011529151.2:p.Gly857Arg
XM_017029259.2:c.2569G>A XP_016884748.1:p.Gly857Arg
XM_017029260.1:c.2569G>A XP_016884749.1:p.Gly857Arg
XM_017029261.1:c.2569G>A XP_016884750.1:p.Gly857Arg
XM_017029262.2:c.2569G>A XP_016884751.1:p.Gly857Arg
XM_017029263.2:c.889G>A XP_016884752.1:p.Gly297Arg
ENST00000328300.10:c.2554G>A ENSP00000331902.6:p.Gly852Arg
ENST00000361603.6:c.2554G>A ENSP00000354505.2:p.Gly852Arg
ENST00000483338.1:n.2010G>A