Canonical Allele Identifier: CA258480

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24412
• ClinVar RCV Id: RCV001582492 ; RCV002490400
• dbSNP Id: rs281874668
• MyVariant Identifiers: chrX:g.107838719T>A (hg19) ; chrX:g.108595489T>A (hg38)
• PubMed: PMID:19919694

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595489T>A , CM000685.2:g.108595489T>A	GRCh38
NC_000023.10:g.107838719T>A , CM000685.1:g.107838719T>A	GRCh37
NC_000023.9:g.107725375T>A	NCBI36
NG_011977.1:g.160566T>A
NG_011977.2:g.160566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1424-20T>A MANE Select	ENSP00000331902.7:n.1424-20T>A
ENST00000361603.7:c.1424-20T>A	ENSP00000354505.2:n.1424-20T>A
ENST00000328300.10:c.1424-20T>A	ENSP00000331902.6:n.1424-20T>A
ENST00000361603.6:c.1424-20T>A	ENSP00000354505.2:n.1424-20T>A
ENST00000483338.1:n.880-20T>A
NM_000495.4:c.1424-20T>A	NP_000486.1:n.1424-20T>A
NM_033380.2:c.1424-20T>A	NP_203699.1:n.1424-20T>A
XM_005262070.2:c.1424-20T>A	XP_005262127.1:n.1424-20T>A
XM_005262072.3:c.1424-20T>A	XP_005262129.1:n.1424-20T>A
XM_006724616.2:c.1424-20T>A	XP_006724679.1:n.1424-20T>A
XM_011530849.1:c.1100-20T>A	XP_011529151.1:n.1100-20T>A
XM_011530850.1:c.1424-20T>A	XP_011529152.1:n.1424-20T>A
XM_011530849.2:c.1439-20T>A	XP_011529151.2:n.1439-20T>A
XM_017029259.2:c.1439-20T>A	XP_016884748.1:n.1439-20T>A
XM_017029260.1:c.1439-20T>A	XP_016884749.1:n.1439-20T>A
XM_017029261.1:c.1439-20T>A	XP_016884750.1:n.1439-20T>A
XM_017029262.2:c.1439-20T>A	XP_016884751.1:n.1439-20T>A
XM_017029263.2:c.-242-20T>A	XP_016884752.1:n.-242-20T>A
NM_000495.5:c.1424-20T>A	NP_000486.1:n.1424-20T>A
NM_033380.3:c.1424-20T>A MANE Select	NP_203699.1:n.1424-20T>A