Canonical Allele Identifier: CA258303
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24308
ClinVar RCV Id: RCV000021186
dbSNP Id: rs104886074

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108578079G>T , CM000685.2:g.108578079G>T GRCh38
NC_000023.10:g.107821309G>T , CM000685.1:g.107821309G>T GRCh37
NC_000023.9:g.107707965G>T NCBI36
NG_011977.1:g.143156G>T
NG_011977.2:g.143156G>T

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.647G>T VV NP_000486.1:p.Gly216Val
NM_033380.2:c.647G>T VV NP_203699.1:p.Gly216Val
XM_005262070.2:c.647G>T XP_005262127.1:p.Gly216Val
XM_005262072.3:c.647G>T XP_005262129.1:p.Gly216Val
XM_006724616.2:c.647G>T XP_006724679.1:p.Gly216Val
XM_011530849.1:c.323G>T XP_011529151.1:p.Gly108Val
XM_011530850.1:c.647G>T XP_011529152.1:p.Gly216Val
XM_011530849.2:c.662G>T XP_011529151.2:p.Gly221Val
XM_017029259.2:c.662G>T XP_016884748.1:p.Gly221Val
XM_017029260.1:c.662G>T XP_016884749.1:p.Gly221Val
XM_017029261.1:c.662G>T XP_016884750.1:p.Gly221Val
XM_017029262.2:c.662G>T XP_016884751.1:p.Gly221Val
ENST00000328300.10:c.647G>T ENSP00000331902.6:p.Gly216Val
ENST00000361603.6:c.647G>T ENSP00000354505.2:p.Gly216Val