Canonical Allele Identifier: CA414132843

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2110912
• ClinVar RCV Id: RCV003020364
• MyVariant Identifiers: chrX:g.107938593G>A (hg19) ; chrX:g.108695363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695363G>A , CM000685.2:g.108695363G>A	GRCh38
NC_000023.10:g.107938593G>A , CM000685.1:g.107938593G>A	GRCh37
NC_000023.9:g.107825249G>A	NCBI36
NG_011977.1:g.260440G>A
NG_011977.2:g.260440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4918G>A MANE Select	ENSP00000331902.7:p.Gly1640Arg
ENST00000361603.7:c.4900G>A	ENSP00000354505.2:p.Gly1634Arg
ENST00000510690.2:n.1412G>A
ENST00000644079.1:n.1749G>A
ENST00000328300.10:c.4918G>A	ENSP00000331902.6:p.Gly1640Arg
ENST00000361603.6:c.4900G>A	ENSP00000354505.2:p.Gly1634Arg
ENST00000504541.1:c.219+442G>A	ENSP00000424845.1:n.219+442G>A
ENST00000515658.1:c.325-934G>A
NM_000495.4:c.4900G>A	NP_000486.1:p.Gly1634Arg
NM_033380.2:c.4918G>A	NP_203699.1:p.Gly1640Arg
XM_005262070.2:c.4909G>A	XP_005262127.1:p.Gly1637Arg
XM_006724616.2:c.4918G>A	XP_006724679.1:p.Gly1640Arg
XM_011530849.1:c.4594G>A	XP_011529151.1:p.Gly1532Arg
XM_011530851.1:c.2491G>A	XP_011529153.1:p.Gly831Arg
XM_011530849.2:c.4933G>A	XP_011529151.2:p.Gly1645Arg
XM_017029259.2:c.4924G>A	XP_016884748.1:p.Gly1642Arg
XM_017029260.1:c.4915G>A	XP_016884749.1:p.Gly1639Arg
XM_017029263.2:c.3253G>A	XP_016884752.1:p.Gly1085Arg
NM_000495.5:c.4900G>A	NP_000486.1:p.Gly1634Arg
NM_033380.3:c.4918G>A MANE Select	NP_203699.1:p.Gly1640Arg