Canonical Allele Identifier: CA259087

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24757
• ClinVar RCV Id: RCV000021636 ; RCV000518063 ; RCV001375165 ; RCV002293990
• dbSNP Id: rs281874743
• gnomAD v3: X-108692925-G-A
• gnomAD v4: X-108692925-G-A
• MyVariant Identifiers: chrX:g.107936155G>A (hg19) ; chrX:g.108692925G>A (hg38)
• PubMed: PMID:8406498 ; PMID:8455372 ; PMID:10094548 ; PMID:11462238 ; PMID:12105244 ; PMID:15957001

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692925G>A , CM000685.2:g.108692925G>A	GRCh38
NC_000023.10:g.107936155G>A , CM000685.1:g.107936155G>A	GRCh37
NC_000023.9:g.107822811G>A	NCBI36
NG_011977.1:g.258002G>A
NG_011977.2:g.258002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4706G>A MANE Select	ENSP00000331902.7:p.Arg1569Gln
ENST00000361603.7:c.4688G>A	ENSP00000354505.2:p.Arg1563Gln
ENST00000510690.2:n.1200G>A
ENST00000328300.10:c.4706G>A	ENSP00000331902.6:p.Arg1569Gln
ENST00000361603.6:c.4688G>A	ENSP00000354505.2:p.Arg1563Gln
ENST00000504541.1:c.104G>A	ENSP00000424845.1:p.Arg35Gln
ENST00000515658.1:c.325-3372G>A
NM_000495.4:c.4688G>A	NP_000486.1:p.Arg1563Gln
NM_033380.2:c.4706G>A	NP_203699.1:p.Arg1569Gln
XM_005262070.2:c.4697G>A	XP_005262127.1:p.Arg1566Gln
XM_006724616.2:c.4706G>A	XP_006724679.1:p.Arg1569Gln
XM_011530849.1:c.4382G>A	XP_011529151.1:p.Arg1461Gln
XM_011530851.1:c.2279G>A	XP_011529153.1:p.Arg760Gln
XM_011530849.2:c.4721G>A	XP_011529151.2:p.Arg1574Gln
XM_017029259.2:c.4712G>A	XP_016884748.1:p.Arg1571Gln
XM_017029260.1:c.4703G>A	XP_016884749.1:p.Arg1568Gln
XM_017029263.2:c.3041G>A	XP_016884752.1:p.Arg1014Gln
NM_000495.5:c.4688G>A	NP_000486.1:p.Arg1563Gln
NM_033380.3:c.4706G>A MANE Select	NP_203699.1:p.Arg1569Gln