Canonical Allele Identifier: CA258697

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24529
• ClinVar RCV Id: RCV000991628 ; RCV002496434
• dbSNP Id: rs281874696
• MyVariant Identifiers: chrX:g.107858245G>C (hg19) ; chrX:g.108615015G>C (hg38)
• PubMed: PMID:20378821

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108615015G>C , CM000685.2:g.108615015G>C	GRCh38
NC_000023.10:g.107858245G>C , CM000685.1:g.107858245G>C	GRCh37
NC_000023.9:g.107744901G>C	NCBI36
NG_011977.1:g.180092G>C
NG_011977.2:g.180092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2500G>C MANE Select	ENSP00000331902.7:p.Gly834Arg
ENST00000361603.7:c.2500G>C	ENSP00000354505.2:p.Gly834Arg
ENST00000328300.10:c.2500G>C	ENSP00000331902.6:p.Gly834Arg
ENST00000361603.6:c.2500G>C	ENSP00000354505.2:p.Gly834Arg
ENST00000483338.1:n.1956G>C
NM_000495.4:c.2500G>C	NP_000486.1:p.Gly834Arg
NM_033380.2:c.2500G>C	NP_203699.1:p.Gly834Arg
XM_005262070.2:c.2500G>C	XP_005262127.1:p.Gly834Arg
XM_005262072.3:c.2500G>C	XP_005262129.1:p.Gly834Arg
XM_006724616.2:c.2500G>C	XP_006724679.1:p.Gly834Arg
XM_011530849.1:c.2176G>C	XP_011529151.1:p.Gly726Arg
XM_011530850.1:c.2500G>C	XP_011529152.1:p.Gly834Arg
XM_011530851.1:c.73G>C	XP_011529153.1:p.Gly25Arg
XM_011530849.2:c.2515G>C	XP_011529151.2:p.Gly839Arg
XM_017029259.2:c.2515G>C	XP_016884748.1:p.Gly839Arg
XM_017029260.1:c.2515G>C	XP_016884749.1:p.Gly839Arg
XM_017029261.1:c.2515G>C	XP_016884750.1:p.Gly839Arg
XM_017029262.2:c.2515G>C	XP_016884751.1:p.Gly839Arg
XM_017029263.2:c.835G>C	XP_016884752.1:p.Gly279Arg
NM_000495.5:c.2500G>C	NP_000486.1:p.Gly834Arg
NM_033380.3:c.2500G>C MANE Select	NP_203699.1:p.Gly834Arg