Canonical Allele Identifier: CA414132957

Gene: COL4A5

Linked Data

• COSMIC: COSM4879146 ; COSM4879147
• MyVariant Identifiers: chrX:g.107938642C>G (hg19) ; chrX:g.108695412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695412C>G , CM000685.2:g.108695412C>G	GRCh38
NC_000023.10:g.107938642C>G , CM000685.1:g.107938642C>G	GRCh37
NC_000023.9:g.107825298C>G	NCBI36
NG_011977.1:g.260489C>G
NG_011977.2:g.260489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4967C>G MANE Select	ENSP00000331902.7:p.Ala1656Gly
ENST00000361603.7:c.4949C>G	ENSP00000354505.2:p.Ala1650Gly
ENST00000510690.2:n.1461C>G
ENST00000644079.1:n.1798C>G
ENST00000328300.10:c.4967C>G	ENSP00000331902.6:p.Ala1656Gly
ENST00000361603.6:c.4949C>G	ENSP00000354505.2:p.Ala1650Gly
ENST00000504541.1:c.219+491C>G	ENSP00000424845.1:n.219+491C>G
ENST00000515658.1:c.325-885C>G
NM_000495.4:c.4949C>G	NP_000486.1:p.Ala1650Gly
NM_033380.2:c.4967C>G	NP_203699.1:p.Ala1656Gly
XM_005262070.2:c.4958C>G	XP_005262127.1:p.Ala1653Gly
XM_006724616.2:c.4967C>G	XP_006724679.1:p.Ala1656Gly
XM_011530849.1:c.4643C>G	XP_011529151.1:p.Ala1548Gly
XM_011530851.1:c.2540C>G	XP_011529153.1:p.Ala847Gly
XM_011530849.2:c.4982C>G	XP_011529151.2:p.Ala1661Gly
XM_017029259.2:c.4973C>G	XP_016884748.1:p.Ala1658Gly
XM_017029260.1:c.4964C>G	XP_016884749.1:p.Ala1655Gly
XM_017029263.2:c.3302C>G	XP_016884752.1:p.Ala1101Gly
NM_000495.5:c.4949C>G	NP_000486.1:p.Ala1650Gly
NM_033380.3:c.4967C>G MANE Select	NP_203699.1:p.Ala1656Gly