Canonical Allele Identifier: CA10489284
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 990709
dbSNP Id: rs748850424

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680944A>G , CM000685.2:g.108680944A>G GRCh38
NC_000023.10:g.107924174A>G , CM000685.1:g.107924174A>G GRCh37
NC_000023.9:g.107810830A>G NCBI36
NG_011977.1:g.246021A>G
NG_011977.2:g.246021A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4075A>G MANE Select ENSP00000331902.7:p.Ile1359Val
ENST00000361603.7:c.4057A>G ENSP00000354505.2:p.Ile1353Val
ENST00000510690.2:n.569A>G
ENST00000328300.10:c.4075A>G ENSP00000331902.6:p.Ile1359Val
ENST00000361603.6:c.4057A>G ENSP00000354505.2:p.Ile1353Val
ENST00000489230.1:n.478A>G
NM_000495.4:c.4057A>G NP_000486.1:p.Ile1353Val
NM_033380.2:c.4075A>G NP_203699.1:p.Ile1359Val
XM_005262070.2:c.4066A>G XP_005262127.1:p.Ile1356Val
XM_006724616.2:c.4075A>G XP_006724679.1:p.Ile1359Val
XM_011530849.1:c.3751A>G XP_011529151.1:p.Ile1251Val
XM_011530851.1:c.1648A>G XP_011529153.1:p.Ile550Val
XM_011530849.2:c.4090A>G XP_011529151.2:p.Ile1364Val
XM_017029259.2:c.4081A>G XP_016884748.1:p.Ile1361Val
XM_017029260.1:c.4072A>G XP_016884749.1:p.Ile1358Val
XM_017029263.2:c.2410A>G XP_016884752.1:p.Ile804Val
NM_000495.5:c.4057A>G NP_000486.1:p.Ile1353Val
NM_033380.3:c.4075A>G MANE Select NP_203699.1:p.Ile1359Val