Canonical Allele Identifier: CA258350
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24339
ClinVar RCV Id: RCV000021217
dbSNP Id: rs104886452

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108580982G>C , CM000685.2:g.108580982G>C GRCh38
NC_000023.10:g.107824212G>C , CM000685.1:g.107824212G>C GRCh37
NC_000023.9:g.107710868G>C NCBI36
NG_011977.1:g.146059G>C
NG_011977.2:g.146059G>C

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.892-1G>C VV NP_000486.1:p.=
NM_033380.2:c.892-1G>C VV NP_203699.1:p.=
XM_005262070.2:c.892-1G>C XP_005262127.1:p.=
XM_005262072.3:c.892-1G>C XP_005262129.1:p.=
XM_006724616.2:c.892-1G>C XP_006724679.1:p.=
XM_011530849.1:c.568-1G>C XP_011529151.1:p.=
XM_011530850.1:c.892-1G>C XP_011529152.1:p.=
XM_011530849.2:c.907-1G>C XP_011529151.2:p.=
XM_017029259.2:c.907-1G>C XP_016884748.1:p.=
XM_017029260.1:c.907-1G>C XP_016884749.1:p.=
XM_017029261.1:c.907-1G>C XP_016884750.1:p.=
XM_017029262.2:c.907-1G>C XP_016884751.1:p.=
ENST00000328300.10:c.892-1G>C ENSP00000331902.6:p.=
ENST00000361603.6:c.892-1G>C ENSP00000354505.2:p.=