Canonical Allele Identifier: CA413853926

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 3061894
• ClinVar RCV Id: RCV003984941
• dbSNP Id: rs1324240604
• gnomAD v2: X-107930717-C-T
• gnomAD v4: X-108687487-C-T
• MyVariant Identifiers: chrX:g.107930717C>T (hg19) ; chrX:g.108687487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687487C>T , CM000685.2:g.108687487C>T	GRCh38
NC_000023.10:g.107930717C>T , CM000685.1:g.107930717C>T	GRCh37
NC_000023.9:g.107817373C>T	NCBI36
NG_011977.1:g.252564C>T
NG_011977.2:g.252564C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4321C>T MANE Select	ENSP00000331902.7:p.Arg1441Cys
ENST00000361603.7:c.4303C>T	ENSP00000354505.2:p.Arg1435Cys
ENST00000510690.2:n.815C>T
ENST00000328300.10:c.4321C>T	ENSP00000331902.6:p.Arg1441Cys
ENST00000361603.6:c.4303C>T	ENSP00000354505.2:p.Arg1435Cys
ENST00000489230.1:n.724C>T
ENST00000515658.1:c.117C>T
NM_000495.4:c.4303C>T	NP_000486.1:p.Arg1435Cys
NM_033380.2:c.4321C>T	NP_203699.1:p.Arg1441Cys
XM_005262070.2:c.4312C>T	XP_005262127.1:p.Arg1438Cys
XM_006724616.2:c.4321C>T	XP_006724679.1:p.Arg1441Cys
XM_011530849.1:c.3997C>T	XP_011529151.1:p.Arg1333Cys
XM_011530851.1:c.1894C>T	XP_011529153.1:p.Arg632Cys
XM_011530849.2:c.4336C>T	XP_011529151.2:p.Arg1446Cys
XM_017029259.2:c.4327C>T	XP_016884748.1:p.Arg1443Cys
XM_017029260.1:c.4318C>T	XP_016884749.1:p.Arg1440Cys
XM_017029263.2:c.2656C>T	XP_016884752.1:p.Arg886Cys
NM_000495.5:c.4303C>T	NP_000486.1:p.Arg1435Cys
NM_033380.3:c.4321C>T MANE Select	NP_203699.1:p.Arg1441Cys