Canonical Allele Identifier: CA258510
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24431
ClinVar RCV Id: RCV000021310
dbSNP Id: rs104886127

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108597423G>T , CM000685.2:g.108597423G>T GRCh38
NC_000023.9:g.107727309G>T NCBI36
NC_000023.10:g.107840653G>T , CM000685.1:g.107840653G>T GRCh37
NG_011977.1:g.162500G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.1634G>T ENSP00000331902.6:p.Gly545Val
ENST00000361603.6:c.1634G>T ENSP00000354505.2:p.Gly545Val
ENST00000483338.1:n.1090G>T
NM_000495.4:c.1634G>T VV NP_000486.1:p.Gly545Val
NM_033380.2:c.1634G>T VV NP_203699.1:p.Gly545Val
XM_005262070.2:c.1634G>T XP_005262127.1:p.Gly545Val
XM_005262072.3:c.1634G>T XP_005262129.1:p.Gly545Val
XM_006724616.2:c.1634G>T XP_006724679.1:p.Gly545Val
XM_011530849.1:c.1310G>T XP_011529151.1:p.Gly437Val
XM_011530850.1:c.1634G>T XP_011529152.1:p.Gly545Val
XM_011530849.2:c.1649G>T XP_011529151.2:p.Gly550Val
XM_017029259.2:c.1649G>T XP_016884748.1:p.Gly550Val
XM_017029260.1:c.1649G>T XP_016884749.1:p.Gly550Val
XM_017029261.1:c.1649G>T XP_016884750.1:p.Gly550Val
XM_017029262.2:c.1649G>T XP_016884751.1:p.Gly550Val
XM_017029263.2:c.-32G>T XP_016884752.1:p.=