Canonical Allele Identifier: CA258868

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24633
• ClinVar RCV Id: RCV001382249 ; RCV003338386
• dbSNP Id: rs104886388
• MyVariant Identifiers: chrX:g.107909717A>G (hg19) ; chrX:g.108666487A>G (hg38)
• PubMed: PMID:10862091

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666487A>G , CM000685.2:g.108666487A>G	GRCh38
NC_000023.10:g.107909717A>G , CM000685.1:g.107909717A>G	GRCh37
NC_000023.9:g.107796373A>G	NCBI36
NG_011977.1:g.231564A>G
NG_011977.2:g.231564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3455-9A>G MANE Select	ENSP00000331902.7:n.3455-9A>G
ENST00000361603.7:c.3455-9A>G	ENSP00000354505.2:n.3455-9A>G
ENST00000328300.10:c.3455-9A>G	ENSP00000331902.6:n.3455-9A>G
ENST00000361603.6:c.3455-9A>G	ENSP00000354505.2:n.3455-9A>G
NM_000495.4:c.3455-9A>G	NP_000486.1:n.3455-9A>G
NM_033380.2:c.3455-9A>G	NP_203699.1:n.3455-9A>G
XM_005262070.2:c.3455-9A>G	XP_005262127.1:n.3455-9A>G
XM_006724616.2:c.3455-9A>G	XP_006724679.1:n.3455-9A>G
XM_011530849.1:c.3131-9A>G	XP_011529151.1:n.3131-9A>G
XM_011530850.1:c.3455-9A>G	XP_011529152.1:n.3455-9A>G
XM_011530851.1:c.1028-9A>G	XP_011529153.1:n.1028-9A>G
XM_011530849.2:c.3470-9A>G	XP_011529151.2:n.3470-9A>G
XM_017029259.2:c.3470-9A>G	XP_016884748.1:n.3470-9A>G
XM_017029260.1:c.3470-9A>G	XP_016884749.1:n.3470-9A>G
XM_017029261.1:c.3470-9A>G	XP_016884750.1:n.3470-9A>G
XM_017029262.2:c.3470-9A>G	XP_016884751.1:n.3470-9A>G
XM_017029263.2:c.1790-9A>G	XP_016884752.1:n.1790-9A>G
NM_000495.5:c.3455-9A>G	NP_000486.1:n.3455-9A>G
NM_033380.3:c.3455-9A>G MANE Select	NP_203699.1:n.3455-9A>G