Canonical Allele Identifier: CA258869
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24634
ClinVar RCV Id: RCV000021513
dbSNP Id: rs104886389

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666513G>T , CM000685.2:g.108666513G>T GRCh38
NC_000023.10:g.107909743G>T , CM000685.1:g.107909743G>T GRCh37
NC_000023.9:g.107796399G>T NCBI36
NG_011977.1:g.231590G>T

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.3472G>T VV NP_000486.1:p.Gly1158Trp
NM_033380.2:c.3472G>T VV NP_203699.1:p.Gly1158Trp
XM_005262070.2:c.3472G>T XP_005262127.1:p.Gly1158Trp
XM_006724616.2:c.3472G>T XP_006724679.1:p.Gly1158Trp
XM_011530849.1:c.3148G>T XP_011529151.1:p.Gly1050Trp
XM_011530850.1:c.3472G>T XP_011529152.1:p.Gly1158Trp
XM_011530851.1:c.1045G>T XP_011529153.1:p.Gly349Trp
XM_011530849.2:c.3487G>T XP_011529151.2:p.Gly1163Trp
XM_017029259.2:c.3487G>T XP_016884748.1:p.Gly1163Trp
XM_017029260.1:c.3487G>T XP_016884749.1:p.Gly1163Trp
XM_017029261.1:c.3487G>T XP_016884750.1:p.Gly1163Trp
XM_017029262.2:c.3487G>T XP_016884751.1:p.Gly1163Trp
XM_017029263.2:c.1807G>T XP_016884752.1:p.Gly603Trp
ENST00000328300.10:c.3472G>T ENSP00000331902.6:p.Gly1158Trp
ENST00000361603.6:c.3472G>T ENSP00000354505.2:p.Gly1158Trp