Canonical Allele Identifier: CA10488376
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433810
ClinVar RCV Id: RCV001952734
dbSNP Id: rs779142914

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108559086T>G , CM000685.2:g.108559086T>G GRCh38
NC_000023.10:g.107802316T>G , CM000685.1:g.107802316T>G GRCh37
NC_000023.9:g.107688972T>G NCBI36
NG_011977.1:g.124163T>G
NG_011977.2:g.124163T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.164T>G MANE Select ENSP00000331902.7:p.Leu55Trp
ENST00000361603.7:c.164T>G ENSP00000354505.2:p.Leu55Trp
ENST00000328300.10:c.164T>G ENSP00000331902.6:p.Leu55Trp
ENST00000361603.6:c.164T>G ENSP00000354505.2:p.Leu55Trp
ENST00000470339.1:n.348T>G
NM_000495.4:c.164T>G NP_000486.1:p.Leu55Trp
NM_033380.2:c.164T>G NP_203699.1:p.Leu55Trp
XM_005262070.2:c.164T>G XP_005262127.1:p.Leu55Trp
XM_005262072.3:c.164T>G XP_005262129.1:p.Leu55Trp
XM_006724616.2:c.164T>G XP_006724679.1:p.Leu55Trp
XM_011530849.1:c.-161T>G XP_011529151.1:n.-161T>G
XM_011530850.1:c.164T>G XP_011529152.1:p.Leu55Trp
XM_011530849.2:c.179T>G XP_011529151.2:p.Leu60Trp
XM_017029259.2:c.179T>G XP_016884748.1:p.Leu60Trp
XM_017029260.1:c.179T>G XP_016884749.1:p.Leu60Trp
XM_017029261.1:c.179T>G XP_016884750.1:p.Leu60Trp
XM_017029262.2:c.179T>G XP_016884751.1:p.Leu60Trp
NM_000495.5:c.164T>G NP_000486.1:p.Leu55Trp
NM_033380.3:c.164T>G MANE Select NP_203699.1:p.Leu55Trp