Canonical Allele Identifier: CA413853907

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 996230
• ClinVar RCV Id: RCV001290541 ; RCV001377048
• dbSNP Id: rs281874735
• gnomAD v4: X-108687482-G-A
• MyVariant Identifiers: chrX:g.107930712G>A (hg19) ; chrX:g.108687482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687482G>A , CM000685.2:g.108687482G>A	GRCh38
NC_000023.10:g.107930712G>A , CM000685.1:g.107930712G>A	GRCh37
NC_000023.9:g.107817368G>A	NCBI36
NG_011977.1:g.252559G>A
NG_011977.2:g.252559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4316G>A MANE Select	ENSP00000331902.7:p.Gly1439Asp
ENST00000361603.7:c.4298G>A	ENSP00000354505.2:p.Gly1433Asp
ENST00000510690.2:n.810G>A
ENST00000328300.10:c.4316G>A	ENSP00000331902.6:p.Gly1439Asp
ENST00000361603.6:c.4298G>A	ENSP00000354505.2:p.Gly1433Asp
ENST00000489230.1:n.719G>A
ENST00000515658.1:c.112G>A
NM_000495.4:c.4298G>A	NP_000486.1:p.Gly1433Asp
NM_033380.2:c.4316G>A	NP_203699.1:p.Gly1439Asp
XM_005262070.2:c.4307G>A	XP_005262127.1:p.Gly1436Asp
XM_006724616.2:c.4316G>A	XP_006724679.1:p.Gly1439Asp
XM_011530849.1:c.3992G>A	XP_011529151.1:p.Gly1331Asp
XM_011530851.1:c.1889G>A	XP_011529153.1:p.Gly630Asp
XM_011530849.2:c.4331G>A	XP_011529151.2:p.Gly1444Asp
XM_017029259.2:c.4322G>A	XP_016884748.1:p.Gly1441Asp
XM_017029260.1:c.4313G>A	XP_016884749.1:p.Gly1438Asp
XM_017029263.2:c.2651G>A	XP_016884752.1:p.Gly884Asp
NM_000495.5:c.4298G>A	NP_000486.1:p.Gly1433Asp
NM_033380.3:c.4316G>A MANE Select	NP_203699.1:p.Gly1439Asp