Canonical Allele Identifier: CA259080

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24755
• ClinVar RCV Id: RCV000435037 ; RCV001328294
• dbSNP Id: rs104886286
• MyVariant Identifiers: chrX:g.107936154C>T (hg19) ; chrX:g.108692924C>T (hg38)
• PubMed: PMID:8940267

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692924C>T , CM000685.2:g.108692924C>T	GRCh38
NC_000023.10:g.107936154C>T , CM000685.1:g.107936154C>T	GRCh37
NC_000023.9:g.107822810C>T	NCBI36
NG_011977.1:g.258001C>T
NG_011977.2:g.258001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4705C>T MANE Select	ENSP00000331902.7:p.Arg1569Ter
ENST00000361603.7:c.4687C>T	ENSP00000354505.2:p.Arg1563Ter
ENST00000510690.2:n.1199C>T
ENST00000328300.10:c.4705C>T	ENSP00000331902.6:p.Arg1569Ter
ENST00000361603.6:c.4687C>T	ENSP00000354505.2:p.Arg1563Ter
ENST00000504541.1:c.103C>T	ENSP00000424845.1:p.Arg35Ter
ENST00000515658.1:c.325-3373C>T
NM_000495.4:c.4687C>T	NP_000486.1:p.Arg1563Ter
NM_033380.2:c.4705C>T	NP_203699.1:p.Arg1569Ter
XM_005262070.2:c.4696C>T	XP_005262127.1:p.Arg1566Ter
XM_006724616.2:c.4705C>T	XP_006724679.1:p.Arg1569Ter
XM_011530849.1:c.4381C>T	XP_011529151.1:p.Arg1461Ter
XM_011530851.1:c.2278C>T	XP_011529153.1:p.Arg760Ter
XM_011530849.2:c.4720C>T	XP_011529151.2:p.Arg1574Ter
XM_017029259.2:c.4711C>T	XP_016884748.1:p.Arg1571Ter
XM_017029260.1:c.4702C>T	XP_016884749.1:p.Arg1568Ter
XM_017029263.2:c.3040C>T	XP_016884752.1:p.Arg1014Ter
NM_000495.5:c.4687C>T	NP_000486.1:p.Arg1563Ter
NM_033380.3:c.4705C>T MANE Select	NP_203699.1:p.Arg1569Ter