Canonical Allele Identifier: CA414132761

Gene: COL4A5

Linked Data

• COSMIC: COSM1715408
• MyVariant Identifiers: chrX:g.107938557G>A (hg19) ; chrX:g.108695327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695327G>A , CM000685.2:g.108695327G>A	GRCh38
NC_000023.10:g.107938557G>A , CM000685.1:g.107938557G>A	GRCh37
NC_000023.9:g.107825213G>A	NCBI36
NG_011977.1:g.260404G>A
NG_011977.2:g.260404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4882G>A MANE Select	ENSP00000331902.7:p.Glu1628Lys
ENST00000361603.7:c.4864G>A	ENSP00000354505.2:p.Glu1622Lys
ENST00000510690.2:n.1376G>A
ENST00000644079.1:n.1713G>A
ENST00000328300.10:c.4882G>A	ENSP00000331902.6:p.Glu1628Lys
ENST00000361603.6:c.4864G>A	ENSP00000354505.2:p.Glu1622Lys
ENST00000504541.1:c.219+406G>A	ENSP00000424845.1:n.219+406G>A
ENST00000515658.1:c.325-970G>A
NM_000495.4:c.4864G>A	NP_000486.1:p.Glu1622Lys
NM_033380.2:c.4882G>A	NP_203699.1:p.Glu1628Lys
XM_005262070.2:c.4873G>A	XP_005262127.1:p.Glu1625Lys
XM_006724616.2:c.4882G>A	XP_006724679.1:p.Glu1628Lys
XM_011530849.1:c.4558G>A	XP_011529151.1:p.Glu1520Lys
XM_011530851.1:c.2455G>A	XP_011529153.1:p.Glu819Lys
XM_011530849.2:c.4897G>A	XP_011529151.2:p.Glu1633Lys
XM_017029259.2:c.4888G>A	XP_016884748.1:p.Glu1630Lys
XM_017029260.1:c.4879G>A	XP_016884749.1:p.Glu1627Lys
XM_017029263.2:c.3217G>A	XP_016884752.1:p.Glu1073Lys
NM_000495.5:c.4864G>A	NP_000486.1:p.Glu1622Lys
NM_033380.3:c.4882G>A MANE Select	NP_203699.1:p.Glu1628Lys