Canonical Allele Identifier: CA413848929

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 934057
• ClinVar RCV Id: RCV001202390 ; RCV001849482
• dbSNP Id: rs281874721
• MyVariant Identifiers: chrX:g.107911666G>A (hg19) ; chrX:g.108668436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668436G>A , CM000685.2:g.108668436G>A	GRCh38
NC_000023.10:g.107911666G>A , CM000685.1:g.107911666G>A	GRCh37
NC_000023.9:g.107798322G>A	NCBI36
NG_011977.1:g.233513G>A
NG_011977.2:g.233513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3722G>A MANE Select	ENSP00000331902.7:p.Gly1241Asp
ENST00000361603.7:c.3722G>A	ENSP00000354505.2:p.Gly1241Asp
ENST00000328300.10:c.3722G>A	ENSP00000331902.6:p.Gly1241Asp
ENST00000361603.6:c.3722G>A	ENSP00000354505.2:p.Gly1241Asp
NM_000495.4:c.3722G>A	NP_000486.1:p.Gly1241Asp
NM_033380.2:c.3722G>A	NP_203699.1:p.Gly1241Asp
XM_005262070.2:c.3722G>A	XP_005262127.1:p.Gly1241Asp
XM_006724616.2:c.3722G>A	XP_006724679.1:p.Gly1241Asp
XM_011530849.1:c.3398G>A	XP_011529151.1:p.Gly1133Asp
XM_011530850.1:c.3722G>A	XP_011529152.1:p.Gly1241Asp
XM_011530851.1:c.1295G>A	XP_011529153.1:p.Gly432Asp
XM_011530849.2:c.3737G>A	XP_011529151.2:p.Gly1246Asp
XM_017029259.2:c.3737G>A	XP_016884748.1:p.Gly1246Asp
XM_017029260.1:c.3737G>A	XP_016884749.1:p.Gly1246Asp
XM_017029261.1:c.3737G>A	XP_016884750.1:p.Gly1246Asp
XM_017029262.2:c.3737G>A	XP_016884751.1:p.Gly1246Asp
XM_017029263.2:c.2057G>A	XP_016884752.1:p.Gly686Asp
NM_000495.5:c.3722G>A	NP_000486.1:p.Gly1241Asp
NM_033380.3:c.3722G>A MANE Select	NP_203699.1:p.Gly1241Asp