Canonical Allele Identifier: CA258777
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24573
dbSNP Id: rs78972735

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108622766G>T , CM000685.2:g.108622766G>T GRCh38
NC_000023.10:g.107865996G>T , CM000685.1:g.107865996G>T GRCh37
NC_000023.9:g.107752652G>T NCBI36
NG_011977.1:g.187843G>T
NG_011977.2:g.187843G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2858G>T MANE Select ENSP00000331902.7:p.Gly953Val
ENST00000361603.7:c.2858G>T ENSP00000354505.2:p.Gly953Val
ENST00000328300.10:c.2858G>T ENSP00000331902.6:p.Gly953Val
ENST00000361603.6:c.2858G>T ENSP00000354505.2:p.Gly953Val
ENST00000483338.1:n.2314G>T
ENST00000505728.1:c.91G>T
NM_000495.4:c.2858G>T NP_000486.1:p.Gly953Val
NM_033380.2:c.2858G>T NP_203699.1:p.Gly953Val
XM_005262070.2:c.2858G>T XP_005262127.1:p.Gly953Val
XM_005262072.3:c.2858G>T XP_005262129.1:p.Gly953Val
XM_006724616.2:c.2858G>T XP_006724679.1:p.Gly953Val
XM_011530849.1:c.2534G>T XP_011529151.1:p.Gly845Val
XM_011530850.1:c.2858G>T XP_011529152.1:p.Gly953Val
XM_011530851.1:c.431G>T XP_011529153.1:p.Gly144Val
XM_011530849.2:c.2873G>T XP_011529151.2:p.Gly958Val
XM_017029259.2:c.2873G>T XP_016884748.1:p.Gly958Val
XM_017029260.1:c.2873G>T XP_016884749.1:p.Gly958Val
XM_017029261.1:c.2873G>T XP_016884750.1:p.Gly958Val
XM_017029262.2:c.2873G>T XP_016884751.1:p.Gly958Val
XM_017029263.2:c.1193G>T XP_016884752.1:p.Gly398Val
NM_000495.5:c.2858G>T NP_000486.1:p.Gly953Val
NM_033380.3:c.2858G>T MANE Select NP_203699.1:p.Gly953Val