Canonical Allele Identifier: CA258323
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24323
ClinVar RCV Id: RCV000021201
dbSNP Id: rs104886069

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108580542G>C , CM000685.2:g.108580542G>C GRCh38
NC_000023.10:g.107823772G>C , CM000685.1:g.107823772G>C GRCh37
NC_000023.9:g.107710428G>C NCBI36
NG_011977.1:g.145619G>C
NG_011977.2:g.145619G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.790G>C MANE Select ENSP00000331902.7:p.Gly264Arg
ENST00000361603.7:c.790G>C ENSP00000354505.2:p.Gly264Arg
ENST00000328300.10:c.790G>C ENSP00000331902.6:p.Gly264Arg
ENST00000361603.6:c.790G>C ENSP00000354505.2:p.Gly264Arg
NM_000495.4:c.790G>C NP_000486.1:p.Gly264Arg
NM_033380.2:c.790G>C NP_203699.1:p.Gly264Arg
XM_005262070.2:c.790G>C XP_005262127.1:p.Gly264Arg
XM_005262072.3:c.790G>C XP_005262129.1:p.Gly264Arg
XM_006724616.2:c.790G>C XP_006724679.1:p.Gly264Arg
XM_011530849.1:c.466G>C XP_011529151.1:p.Gly156Arg
XM_011530850.1:c.790G>C XP_011529152.1:p.Gly264Arg
XM_011530849.2:c.805G>C XP_011529151.2:p.Gly269Arg
XM_017029259.2:c.805G>C XP_016884748.1:p.Gly269Arg
XM_017029260.1:c.805G>C XP_016884749.1:p.Gly269Arg
XM_017029261.1:c.805G>C XP_016884750.1:p.Gly269Arg
XM_017029262.2:c.805G>C XP_016884751.1:p.Gly269Arg
NM_000495.5:c.790G>C NP_000486.1:p.Gly264Arg
NM_033380.3:c.790G>C MANE Select NP_203699.1:p.Gly264Arg