Canonical Allele Identifier: CA10488966
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1109321
ClinVar RCV Id: RCV001435153
dbSNP Id: rs756161296

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621806C>T , CM000685.2:g.108621806C>T GRCh38
NC_000023.10:g.107865036C>T , CM000685.1:g.107865036C>T GRCh37
NC_000023.9:g.107751692C>T NCBI36
NG_011977.1:g.186883C>T
NG_011977.2:g.186883C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2681C>T MANE Select ENSP00000331902.7:p.Thr894Ile
ENST00000361603.7:c.2681C>T ENSP00000354505.2:p.Thr894Ile
ENST00000328300.10:c.2681C>T ENSP00000331902.6:p.Thr894Ile
ENST00000361603.6:c.2681C>T ENSP00000354505.2:p.Thr894Ile
ENST00000483338.1:n.2137C>T
NM_000495.4:c.2681C>T NP_000486.1:p.Thr894Ile
NM_033380.2:c.2681C>T NP_203699.1:p.Thr894Ile
XM_005262070.2:c.2681C>T XP_005262127.1:p.Thr894Ile
XM_005262072.3:c.2681C>T XP_005262129.1:p.Thr894Ile
XM_006724616.2:c.2681C>T XP_006724679.1:p.Thr894Ile
XM_011530849.1:c.2357C>T XP_011529151.1:p.Thr786Ile
XM_011530850.1:c.2681C>T XP_011529152.1:p.Thr894Ile
XM_011530851.1:c.254C>T XP_011529153.1:p.Thr85Ile
XM_011530849.2:c.2696C>T XP_011529151.2:p.Thr899Ile
XM_017029259.2:c.2696C>T XP_016884748.1:p.Thr899Ile
XM_017029260.1:c.2696C>T XP_016884749.1:p.Thr899Ile
XM_017029261.1:c.2696C>T XP_016884750.1:p.Thr899Ile
XM_017029262.2:c.2696C>T XP_016884751.1:p.Thr899Ile
XM_017029263.2:c.1016C>T XP_016884752.1:p.Thr339Ile
NM_000495.5:c.2681C>T NP_000486.1:p.Thr894Ile
NM_033380.3:c.2681C>T MANE Select NP_203699.1:p.Thr894Ile