Canonical Allele Identifier: CA2549288493

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2914007
• ClinVar RCV Id: RCV003735606
• gnomAD v4: X-108695444-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695444A>G , CM000685.2:g.108695444A>G	GRCh38
NC_000023.10:g.107938674A>G , CM000685.1:g.107938674A>G	GRCh37
NC_000023.9:g.107825330A>G	NCBI36
NG_011977.1:g.260521A>G
NG_011977.2:g.260521A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4994+5A>G MANE Select	ENSP00000331902.7:n.4994+5A>G
ENST00000361603.7:c.4976+5A>G	ENSP00000354505.2:n.4976+5A>G
ENST00000510690.2:n.1488+5A>G
ENST00000644079.1:n.1830A>G
ENST00000328300.10:c.4994+5A>G	ENSP00000331902.6:n.4994+5A>G
ENST00000361603.6:c.4976+5A>G	ENSP00000354505.2:n.4976+5A>G
ENST00000504541.1:c.219+523A>G	ENSP00000424845.1:n.219+523A>G
ENST00000515658.1:c.325-853A>G
NM_000495.4:c.4976+5A>G	NP_000486.1:n.4976+5A>G
NM_033380.2:c.4994+5A>G	NP_203699.1:n.4994+5A>G
XM_005262070.2:c.4985+5A>G	XP_005262127.1:n.4985+5A>G
XM_006724616.2:c.4994+5A>G	XP_006724679.1:n.4994+5A>G
XM_011530849.1:c.4670+5A>G	XP_011529151.1:n.4670+5A>G
XM_011530851.1:c.2567+5A>G	XP_011529153.1:n.2567+5A>G
XM_011530849.2:c.5009+5A>G	XP_011529151.2:n.5009+5A>G
XM_017029259.2:c.5000+5A>G	XP_016884748.1:n.5000+5A>G
XM_017029260.1:c.4991+5A>G	XP_016884749.1:n.4991+5A>G
XM_017029263.2:c.3329+5A>G	XP_016884752.1:n.3329+5A>G
NM_000495.5:c.4976+5A>G	NP_000486.1:n.4976+5A>G
NM_033380.3:c.4994+5A>G MANE Select	NP_203699.1:n.4994+5A>G