Canonical Allele Identifier: CA414132930

Gene: COL4A5

Linked Data

• COSMIC: COSM4626505 ; COSM4626506
• MyVariant Identifiers: chrX:g.107938631C>A (hg19) ; chrX:g.108695401C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695401C>A , CM000685.2:g.108695401C>A	GRCh38
NC_000023.10:g.107938631C>A , CM000685.1:g.107938631C>A	GRCh37
NC_000023.9:g.107825287C>A	NCBI36
NG_011977.1:g.260478C>A
NG_011977.2:g.260478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4956C>A MANE Select	ENSP00000331902.7:p.Ser1652Arg
ENST00000361603.7:c.4938C>A	ENSP00000354505.2:p.Ser1646Arg
ENST00000510690.2:n.1450C>A
ENST00000644079.1:n.1787C>A
ENST00000328300.10:c.4956C>A	ENSP00000331902.6:p.Ser1652Arg
ENST00000361603.6:c.4938C>A	ENSP00000354505.2:p.Ser1646Arg
ENST00000504541.1:c.219+480C>A	ENSP00000424845.1:n.219+480C>A
ENST00000515658.1:c.325-896C>A
NM_000495.4:c.4938C>A	NP_000486.1:p.Ser1646Arg
NM_033380.2:c.4956C>A	NP_203699.1:p.Ser1652Arg
XM_005262070.2:c.4947C>A	XP_005262127.1:p.Ser1649Arg
XM_006724616.2:c.4956C>A	XP_006724679.1:p.Ser1652Arg
XM_011530849.1:c.4632C>A	XP_011529151.1:p.Ser1544Arg
XM_011530851.1:c.2529C>A	XP_011529153.1:p.Ser843Arg
XM_011530849.2:c.4971C>A	XP_011529151.2:p.Ser1657Arg
XM_017029259.2:c.4962C>A	XP_016884748.1:p.Ser1654Arg
XM_017029260.1:c.4953C>A	XP_016884749.1:p.Ser1651Arg
XM_017029263.2:c.3291C>A	XP_016884752.1:p.Ser1097Arg
NM_000495.5:c.4938C>A	NP_000486.1:p.Ser1646Arg
NM_033380.3:c.4956C>A MANE Select	NP_203699.1:p.Ser1652Arg