Canonical Allele Identifier: CA258252
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24275
ClinVar RCV Id: RCV000021153
dbSNP Id: rs104886415

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108573557T>G , CM000685.2:g.108573557T>G GRCh38
NC_000023.10:g.107816787T>G , CM000685.1:g.107816787T>G GRCh37
NC_000023.9:g.107703443T>G NCBI36
NG_011977.1:g.138634T>G
NG_011977.2:g.138634T>G

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.466-17T>G VV NP_000486.1:p.=
NM_033380.2:c.466-17T>G VV NP_203699.1:p.=
XM_005262070.2:c.466-17T>G XP_005262127.1:p.=
XM_005262072.3:c.466-17T>G XP_005262129.1:p.=
XM_006724616.2:c.466-17T>G XP_006724679.1:p.=
XM_011530849.1:c.142-17T>G XP_011529151.1:p.=
XM_011530850.1:c.466-17T>G XP_011529152.1:p.=
XM_011530849.2:c.481-17T>G XP_011529151.2:p.=
XM_017029259.2:c.481-17T>G XP_016884748.1:p.=
XM_017029260.1:c.481-17T>G XP_016884749.1:p.=
XM_017029261.1:c.481-17T>G XP_016884750.1:p.=
XM_017029262.2:c.481-17T>G XP_016884751.1:p.=
ENST00000328300.10:c.466-17T>G ENSP00000331902.6:p.=
ENST00000361603.6:c.466-17T>G ENSP00000354505.2:p.=