Canonical Allele Identifier: CA258204
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24238
ClinVar RCV Id: RCV000021116
dbSNP Id: rs104886048

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108539751C>A , CM000685.2:g.108539751C>A GRCh38
NC_000023.10:g.107782981C>A , CM000685.1:g.107782981C>A GRCh37
NC_000023.9:g.107669637C>A NCBI36
NG_011977.1:g.104828C>A
NG_011977.2:g.104828C>A

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.87C>A VV NP_000486.1:p.Cys29Ter
NM_033380.2:c.87C>A VV NP_203699.1:p.Cys29Ter
XM_005262070.2:c.87C>A XP_005262127.1:p.Cys29Ter
XM_005262072.3:c.87C>A XP_005262129.1:p.Cys29Ter
XM_006724616.2:c.87C>A XP_006724679.1:p.Cys29Ter
XM_011530849.1:c.-238C>A XP_011529151.1:p.=
XM_011530850.1:c.87C>A XP_011529152.1:p.Cys29Ter
XM_011530849.2:c.102C>A XP_011529151.2:p.Cys34Ter
XM_017029259.2:c.102C>A XP_016884748.1:p.Cys34Ter
XM_017029260.1:c.102C>A XP_016884749.1:p.Cys34Ter
XM_017029261.1:c.102C>A XP_016884750.1:p.Cys34Ter
XM_017029262.2:c.102C>A XP_016884751.1:p.Cys34Ter
ENST00000328300.10:c.87C>A ENSP00000331902.6:p.Cys29Ter
ENST00000361603.6:c.87C>A ENSP00000354505.2:p.Cys29Ter
ENST00000470339.1:n.271C>A