Canonical Allele Identifier: CA413853719

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1030828
• ClinVar RCV Id: RCV001332498 ; RCV004526112
• dbSNP Id: rs2068539626
• gnomAD v4: X-108686097-G-A
• COSMIC: COSM4640939 ; COSM4640940
• MyVariant Identifiers: chrX:g.107929327G>A (hg19) ; chrX:g.108686097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686097G>A , CM000685.2:g.108686097G>A	GRCh38
NC_000023.10:g.107929327G>A , CM000685.1:g.107929327G>A	GRCh37
NC_000023.9:g.107815983G>A	NCBI36
NG_011977.1:g.251174G>A
NG_011977.2:g.251174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4283G>A MANE Select	ENSP00000331902.7:p.Arg1428His
ENST00000361603.7:c.4265G>A	ENSP00000354505.2:p.Arg1422His
ENST00000510690.2:n.777G>A
ENST00000328300.10:c.4283G>A	ENSP00000331902.6:p.Arg1428His
ENST00000361603.6:c.4265G>A	ENSP00000354505.2:p.Arg1422His
ENST00000489230.1:n.686G>A
ENST00000515658.1:c.79G>A
NM_000495.4:c.4265G>A	NP_000486.1:p.Arg1422His
NM_033380.2:c.4283G>A	NP_203699.1:p.Arg1428His
XM_005262070.2:c.4274G>A	XP_005262127.1:p.Arg1425His
XM_006724616.2:c.4283G>A	XP_006724679.1:p.Arg1428His
XM_011530849.1:c.3959G>A	XP_011529151.1:p.Arg1320His
XM_011530851.1:c.1856G>A	XP_011529153.1:p.Arg619His
XM_011530849.2:c.4298G>A	XP_011529151.2:p.Arg1433His
XM_017029259.2:c.4289G>A	XP_016884748.1:p.Arg1430His
XM_017029260.1:c.4280G>A	XP_016884749.1:p.Arg1427His
XM_017029263.2:c.2618G>A	XP_016884752.1:p.Arg873His
NM_000495.5:c.4265G>A	NP_000486.1:p.Arg1422His
NM_033380.3:c.4283G>A MANE Select	NP_203699.1:p.Arg1428His