Canonical Allele Identifier: CA259027
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458965
dbSNP Id: rs104886276

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687508G>C , CM000685.2:g.108687508G>C GRCh38
NC_000023.10:g.107930738G>C , CM000685.1:g.107930738G>C GRCh37
NC_000023.9:g.107817394G>C NCBI36
NG_011977.1:g.252585G>C
NG_011977.2:g.252585G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4342G>C MANE Select ENSP00000331902.7:p.Gly1448Arg
ENST00000361603.7:c.4324G>C ENSP00000354505.2:p.Gly1442Arg
ENST00000510690.2:n.836G>C
ENST00000328300.10:c.4342G>C ENSP00000331902.6:p.Gly1448Arg
ENST00000361603.6:c.4324G>C ENSP00000354505.2:p.Gly1442Arg
ENST00000515658.1:c.138G>C
NM_000495.4:c.4324G>C NP_000486.1:p.Gly1442Arg
NM_033380.2:c.4342G>C NP_203699.1:p.Gly1448Arg
XM_005262070.2:c.4333G>C XP_005262127.1:p.Gly1445Arg
XM_006724616.2:c.4342G>C XP_006724679.1:p.Gly1448Arg
XM_011530849.1:c.4018G>C XP_011529151.1:p.Gly1340Arg
XM_011530851.1:c.1915G>C XP_011529153.1:p.Gly639Arg
XM_011530849.2:c.4357G>C XP_011529151.2:p.Gly1453Arg
XM_017029259.2:c.4348G>C XP_016884748.1:p.Gly1450Arg
XM_017029260.1:c.4339G>C XP_016884749.1:p.Gly1447Arg
XM_017029263.2:c.2677G>C XP_016884752.1:p.Gly893Arg
NM_000495.5:c.4324G>C NP_000486.1:p.Gly1442Arg
NM_033380.3:c.4342G>C MANE Select NP_203699.1:p.Gly1448Arg