Canonical Allele Identifier: CA414132941
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 591513
ClinVar RCV Id: RCV000722692
dbSNP Id: rs1569509354

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695405T>C , CM000685.2:g.108695405T>C GRCh38
NC_000023.10:g.107938635T>C , CM000685.1:g.107938635T>C GRCh37
NC_000023.9:g.107825291T>C NCBI36
NG_011977.1:g.260482T>C
NG_011977.2:g.260482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4960T>C MANE Select ENSP00000331902.7:p.Trp1654Arg
ENST00000361603.7:c.4942T>C ENSP00000354505.2:p.Trp1648Arg
ENST00000510690.2:n.1454T>C
ENST00000644079.1:n.1791T>C
ENST00000328300.10:c.4960T>C ENSP00000331902.6:p.Trp1654Arg
ENST00000361603.6:c.4942T>C ENSP00000354505.2:p.Trp1648Arg
ENST00000504541.1:c.219+484T>C ENSP00000424845.1:n.219+484T>C
ENST00000515658.1:c.325-892T>C
NM_000495.4:c.4942T>C NP_000486.1:p.Trp1648Arg
NM_033380.2:c.4960T>C NP_203699.1:p.Trp1654Arg
XM_005262070.2:c.4951T>C XP_005262127.1:p.Trp1651Arg
XM_006724616.2:c.4960T>C XP_006724679.1:p.Trp1654Arg
XM_011530849.1:c.4636T>C XP_011529151.1:p.Trp1546Arg
XM_011530851.1:c.2533T>C XP_011529153.1:p.Trp845Arg
XM_011530849.2:c.4975T>C XP_011529151.2:p.Trp1659Arg
XM_017029259.2:c.4966T>C XP_016884748.1:p.Trp1656Arg
XM_017029260.1:c.4957T>C XP_016884749.1:p.Trp1653Arg
XM_017029263.2:c.3295T>C XP_016884752.1:p.Trp1099Arg
NM_000495.5:c.4942T>C NP_000486.1:p.Trp1648Arg
NM_033380.3:c.4960T>C MANE Select NP_203699.1:p.Trp1654Arg