Canonical Allele Identifier: CA413852323

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1806169
• ClinVar RCV Id: RCV002470453
• dbSNP Id: rs1339067074
• gnomAD v4: X-108681852-G-C
• MyVariant Identifiers: chrX:g.107925082G>C (hg19) ; chrX:g.108681852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681852G>C , CM000685.2:g.108681852G>C	GRCh38
NC_000023.10:g.107925082G>C , CM000685.1:g.107925082G>C	GRCh37
NC_000023.9:g.107811738G>C	NCBI36
NG_011977.1:g.246929G>C
NG_011977.2:g.246929G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4180G>C MANE Select	ENSP00000331902.7:p.Gly1394Arg
ENST00000361603.7:c.4162G>C	ENSP00000354505.2:p.Gly1388Arg
ENST00000510690.2:n.674G>C
ENST00000328300.10:c.4180G>C	ENSP00000331902.6:p.Gly1394Arg
ENST00000361603.6:c.4162G>C	ENSP00000354505.2:p.Gly1388Arg
ENST00000489230.1:n.583G>C
NM_000495.4:c.4162G>C	NP_000486.1:p.Gly1388Arg
NM_033380.2:c.4180G>C	NP_203699.1:p.Gly1394Arg
XM_005262070.2:c.4171G>C	XP_005262127.1:p.Gly1391Arg
XM_006724616.2:c.4180G>C	XP_006724679.1:p.Gly1394Arg
XM_011530849.1:c.3856G>C	XP_011529151.1:p.Gly1286Arg
XM_011530851.1:c.1753G>C	XP_011529153.1:p.Gly585Arg
XM_011530849.2:c.4195G>C	XP_011529151.2:p.Gly1399Arg
XM_017029259.2:c.4186G>C	XP_016884748.1:p.Gly1396Arg
XM_017029260.1:c.4177G>C	XP_016884749.1:p.Gly1393Arg
XM_017029263.2:c.2515G>C	XP_016884752.1:p.Gly839Arg
NM_000495.5:c.4162G>C	NP_000486.1:p.Gly1388Arg
NM_033380.3:c.4180G>C MANE Select	NP_203699.1:p.Gly1394Arg