Canonical Allele Identifier: CA517924455

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2968111
• ClinVar RCV Id: RCV003821237
• gnomAD v4: X-108687519-A-G
• MyVariant Identifiers: chrX:g.107930749A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687519A>G , CM000685.2:g.108687519A>G	GRCh38
NC_000023.10:g.107930749A>G , CM000685.1:g.107930749A>G	GRCh37
NC_000023.9:g.107817405A>G	NCBI36
NG_011977.1:g.252596A>G
NG_011977.2:g.252596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4353A>G MANE Select	ENSP00000331902.7:p.Gly1451=
ENST00000361603.7:c.4335A>G	ENSP00000354505.2:p.Gly1445=
ENST00000510690.2:n.847A>G
ENST00000328300.10:c.4353A>G	ENSP00000331902.6:p.Gly1451=
ENST00000361603.6:c.4335A>G	ENSP00000354505.2:p.Gly1445=
ENST00000515658.1:c.149A>G
NM_000495.4:c.4335A>G	NP_000486.1:p.Gly1445=
NM_033380.2:c.4353A>G	NP_203699.1:p.Gly1451=
XM_005262070.2:c.4344A>G	XP_005262127.1:p.Gly1448=
XM_006724616.2:c.4353A>G	XP_006724679.1:p.Gly1451=
XM_011530849.1:c.4029A>G	XP_011529151.1:p.Gly1343=
XM_011530851.1:c.1926A>G	XP_011529153.1:p.Gly642=
XM_011530849.2:c.4368A>G	XP_011529151.2:p.Gly1456=
XM_017029259.2:c.4359A>G	XP_016884748.1:p.Gly1453=
XM_017029260.1:c.4350A>G	XP_016884749.1:p.Gly1450=
XM_017029263.2:c.2688A>G	XP_016884752.1:p.Gly896=
NM_000495.5:c.4335A>G	NP_000486.1:p.Gly1445=
NM_033380.3:c.4353A>G MANE Select	NP_203699.1:p.Gly1451=