Canonical Allele Identifier: CA413854022

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2775428
• ClinVar RCV Id: RCV003526645
• MyVariant Identifiers: chrX:g.107930748G>A (hg19) ; chrX:g.108687518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687518G>A , CM000685.2:g.108687518G>A	GRCh38
NC_000023.10:g.107930748G>A , CM000685.1:g.107930748G>A	GRCh37
NC_000023.9:g.107817404G>A	NCBI36
NG_011977.1:g.252595G>A
NG_011977.2:g.252595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4352G>A MANE Select	ENSP00000331902.7:p.Gly1451Glu
ENST00000361603.7:c.4334G>A	ENSP00000354505.2:p.Gly1445Glu
ENST00000510690.2:n.846G>A
ENST00000328300.10:c.4352G>A	ENSP00000331902.6:p.Gly1451Glu
ENST00000361603.6:c.4334G>A	ENSP00000354505.2:p.Gly1445Glu
ENST00000515658.1:c.148G>A
NM_000495.4:c.4334G>A	NP_000486.1:p.Gly1445Glu
NM_033380.2:c.4352G>A	NP_203699.1:p.Gly1451Glu
XM_005262070.2:c.4343G>A	XP_005262127.1:p.Gly1448Glu
XM_006724616.2:c.4352G>A	XP_006724679.1:p.Gly1451Glu
XM_011530849.1:c.4028G>A	XP_011529151.1:p.Gly1343Glu
XM_011530851.1:c.1925G>A	XP_011529153.1:p.Gly642Glu
XM_011530849.2:c.4367G>A	XP_011529151.2:p.Gly1456Glu
XM_017029259.2:c.4358G>A	XP_016884748.1:p.Gly1453Glu
XM_017029260.1:c.4349G>A	XP_016884749.1:p.Gly1450Glu
XM_017029263.2:c.2687G>A	XP_016884752.1:p.Gly896Glu
NM_000495.5:c.4334G>A	NP_000486.1:p.Gly1445Glu
NM_033380.3:c.4352G>A MANE Select	NP_203699.1:p.Gly1451Glu