Canonical Allele Identifier: CA2694440485

Gene: COL4A5

Linked Data

• gnomAD v4: X-108625620-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108625620C>A , CM000685.2:g.108625620C>A	GRCh38
NC_000023.10:g.107868850C>A , CM000685.1:g.107868850C>A	GRCh37
NC_000023.9:g.107755506C>A	NCBI36
NG_011977.1:g.190697C>A
NG_011977.2:g.190697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3017-85C>A MANE Select	ENSP00000331902.7:n.3017-85C>A
ENST00000361603.7:c.3017-85C>A	ENSP00000354505.2:n.3017-85C>A
ENST00000328300.10:c.3017-85C>A	ENSP00000331902.6:n.3017-85C>A
ENST00000361603.6:c.3017-85C>A	ENSP00000354505.2:n.3017-85C>A
ENST00000483338.1:n.2473-85C>A
ENST00000505728.1:c.250-85C>A
NM_000495.4:c.3017-85C>A	NP_000486.1:n.3017-85C>A
NM_033380.2:c.3017-85C>A	NP_203699.1:n.3017-85C>A
XM_005262070.2:c.3017-85C>A	XP_005262127.1:n.3017-85C>A
XM_005262072.3:c.3017-85C>A	XP_005262129.1:n.3017-85C>A
XM_006724616.2:c.3017-85C>A	XP_006724679.1:n.3017-85C>A
XM_011530849.1:c.2693-85C>A	XP_011529151.1:n.2693-85C>A
XM_011530850.1:c.3017-85C>A	XP_011529152.1:n.3017-85C>A
XM_011530851.1:c.590-85C>A	XP_011529153.1:n.590-85C>A
XM_011530849.2:c.3032-85C>A	XP_011529151.2:n.3032-85C>A
XM_017029259.2:c.3032-85C>A	XP_016884748.1:n.3032-85C>A
XM_017029260.1:c.3032-85C>A	XP_016884749.1:n.3032-85C>A
XM_017029261.1:c.3032-85C>A	XP_016884750.1:n.3032-85C>A
XM_017029262.2:c.3032-85C>A	XP_016884751.1:n.3032-85C>A
XM_017029263.2:c.1352-85C>A	XP_016884752.1:n.1352-85C>A
NM_000495.5:c.3017-85C>A	NP_000486.1:n.3017-85C>A
NM_033380.3:c.3017-85C>A MANE Select	NP_203699.1:n.3017-85C>A