Canonical Allele Identifier: CA065270

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 222057
• ClinVar RCV Id: RCV000207547 ; RCV001384768 ; RCV003417753
• dbSNP Id: rs104886338
• MyVariant Identifiers: chrX:g.107841931G>T (hg19) ; chrX:g.108598701G>T (hg38)
• PubMed: PMID:26934356

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108598701G>T , CM000685.2:g.108598701G>T	GRCh38
NC_000023.10:g.107841931G>T , CM000685.1:g.107841931G>T	GRCh37
NC_000023.9:g.107728587G>T	NCBI36
NG_011977.1:g.163778G>T
NG_011977.2:g.163778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1780-1G>T MANE Select	ENSP00000331902.7:n.1780-1G>T
ENST00000361603.7:c.1780-1G>T	ENSP00000354505.2:n.1780-1G>T
ENST00000328300.10:c.1780-1G>T	ENSP00000331902.6:n.1780-1G>T
ENST00000361603.6:c.1780-1G>T	ENSP00000354505.2:n.1780-1G>T
ENST00000483338.1:n.1236-1G>T
NM_000495.4:c.1780-1G>T	NP_000486.1:n.1780-1G>T
NM_033380.2:c.1780-1G>T	NP_203699.1:n.1780-1G>T
XM_005262070.2:c.1780-1G>T	XP_005262127.1:n.1780-1G>T
XM_005262072.3:c.1780-1G>T	XP_005262129.1:n.1780-1G>T
XM_006724616.2:c.1780-1G>T	XP_006724679.1:n.1780-1G>T
XM_011530849.1:c.1456-1G>T	XP_011529151.1:n.1456-1G>T
XM_011530850.1:c.1780-1G>T	XP_011529152.1:n.1780-1G>T
XM_011530849.2:c.1795-1G>T	XP_011529151.2:n.1795-1G>T
XM_017029259.2:c.1795-1G>T	XP_016884748.1:n.1795-1G>T
XM_017029260.1:c.1795-1G>T	XP_016884749.1:n.1795-1G>T
XM_017029261.1:c.1795-1G>T	XP_016884750.1:n.1795-1G>T
XM_017029262.2:c.1795-1G>T	XP_016884751.1:n.1795-1G>T
XM_017029263.2:c.115-1G>T	XP_016884752.1:n.115-1G>T
NM_000495.5:c.1780-1G>T	NP_000486.1:n.1780-1G>T
NM_033380.3:c.1780-1G>T MANE Select	NP_203699.1:n.1780-1G>T