Canonical Allele Identifier: CA258981
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24701
ClinVar RCV Id: RCV000021580
dbSNP Id: rs104886267

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680956G>A , CM000685.2:g.108680956G>A GRCh38
NC_000023.9:g.107810842G>A NCBI36
NC_000023.10:g.107924186G>A , CM000685.1:g.107924186G>A GRCh37
NG_011977.1:g.246033G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.4087G>A ENSP00000331902.6:p.Gly1363Ser
ENST00000361603.6:c.4069G>A ENSP00000354505.2:p.Gly1357Ser
ENST00000489230.1:n.490G>A
NM_000495.4:c.4069G>A NP_000486.1:p.Gly1357Ser
NM_033380.2:c.4087G>A NP_203699.1:p.Gly1363Ser
XM_005262070.2:c.4078G>A XP_005262127.1:p.Gly1360Ser
XM_006724616.2:c.4087G>A XP_006724679.1:p.Gly1363Ser
XM_011530849.1:c.3763G>A XP_011529151.1:p.Gly1255Ser
XM_011530851.1:c.1660G>A XP_011529153.1:p.Gly554Ser