Canonical Allele Identifier: CA10489280
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2155408
ClinVar RCV Id: RCV003072319
dbSNP Id: rs374138305

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680936C>T , CM000685.2:g.108680936C>T GRCh38
NC_000023.10:g.107924166C>T , CM000685.1:g.107924166C>T GRCh37
NC_000023.9:g.107810822C>T NCBI36
NG_011977.1:g.246013C>T
NG_011977.2:g.246013C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4067C>T MANE Select ENSP00000331902.7:p.Pro1356Leu
ENST00000361603.7:c.4049C>T ENSP00000354505.2:p.Pro1350Leu
ENST00000510690.2:n.561C>T
ENST00000328300.10:c.4067C>T ENSP00000331902.6:p.Pro1356Leu
ENST00000361603.6:c.4049C>T ENSP00000354505.2:p.Pro1350Leu
ENST00000489230.1:n.470C>T
NM_000495.4:c.4049C>T NP_000486.1:p.Pro1350Leu
NM_033380.2:c.4067C>T NP_203699.1:p.Pro1356Leu
XM_005262070.2:c.4058C>T XP_005262127.1:p.Pro1353Leu
XM_006724616.2:c.4067C>T XP_006724679.1:p.Pro1356Leu
XM_011530849.1:c.3743C>T XP_011529151.1:p.Pro1248Leu
XM_011530851.1:c.1640C>T XP_011529153.1:p.Pro547Leu
XM_011530849.2:c.4082C>T XP_011529151.2:p.Pro1361Leu
XM_017029259.2:c.4073C>T XP_016884748.1:p.Pro1358Leu
XM_017029260.1:c.4064C>T XP_016884749.1:p.Pro1355Leu
XM_017029263.2:c.2402C>T XP_016884752.1:p.Pro801Leu
NM_000495.5:c.4049C>T NP_000486.1:p.Pro1350Leu
NM_033380.3:c.4067C>T MANE Select NP_203699.1:p.Pro1356Leu