Canonical Allele Identifier: CA413854041
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687522G>C , CM000685.2:g.108687522G>C GRCh38
NC_000023.10:g.107930752G>C , CM000685.1:g.107930752G>C GRCh37
NC_000023.9:g.107817408G>C NCBI36
NG_011977.1:g.252599G>C
NG_011977.2:g.252599G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4356G>C MANE Select ENSP00000331902.7:p.Leu1452Phe
ENST00000361603.7:c.4338G>C ENSP00000354505.2:p.Leu1446Phe
ENST00000510690.2:n.850G>C
ENST00000328300.10:c.4356G>C ENSP00000331902.6:p.Leu1452Phe
ENST00000361603.6:c.4338G>C ENSP00000354505.2:p.Leu1446Phe
ENST00000515658.1:c.152G>C
NM_000495.4:c.4338G>C NP_000486.1:p.Leu1446Phe
NM_033380.2:c.4356G>C NP_203699.1:p.Leu1452Phe
XM_005262070.2:c.4347G>C XP_005262127.1:p.Leu1449Phe
XM_006724616.2:c.4356G>C XP_006724679.1:p.Leu1452Phe
XM_011530849.1:c.4032G>C XP_011529151.1:p.Leu1344Phe
XM_011530851.1:c.1929G>C XP_011529153.1:p.Leu643Phe
XM_011530849.2:c.4371G>C XP_011529151.2:p.Leu1457Phe
XM_017029259.2:c.4362G>C XP_016884748.1:p.Leu1454Phe
XM_017029260.1:c.4353G>C XP_016884749.1:p.Leu1451Phe
XM_017029263.2:c.2691G>C XP_016884752.1:p.Leu897Phe
NM_000495.5:c.4338G>C NP_000486.1:p.Leu1446Phe
NM_033380.3:c.4356G>C MANE Select NP_203699.1:p.Leu1452Phe