Canonical Allele Identifier: CA10489281

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1154639
• ClinVar RCV Id: RCV001496713
• dbSNP Id: rs368359594
• ExAC: X:107924167 G / A
• gnomAD v2: X-107924167-G-A
• gnomAD v3: X-108680937-G-A
• gnomAD v4: X-108680937-G-A
• COSMIC: COSM291207
• MyVariant Identifiers: chrX:g.107924167G>A (hg19) ; chrX:g.108680937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680937G>A , CM000685.2:g.108680937G>A	GRCh38
NC_000023.10:g.107924167G>A , CM000685.1:g.107924167G>A	GRCh37
NC_000023.9:g.107810823G>A	NCBI36
NG_011977.1:g.246014G>A
NG_011977.2:g.246014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4068G>A MANE Select	ENSP00000331902.7:p.Pro1356=
ENST00000361603.7:c.4050G>A	ENSP00000354505.2:p.Pro1350=
ENST00000510690.2:n.562G>A
ENST00000328300.10:c.4068G>A	ENSP00000331902.6:p.Pro1356=
ENST00000361603.6:c.4050G>A	ENSP00000354505.2:p.Pro1350=
ENST00000489230.1:n.471G>A
NM_000495.4:c.4050G>A	NP_000486.1:p.Pro1350=
NM_033380.2:c.4068G>A	NP_203699.1:p.Pro1356=
XM_005262070.2:c.4059G>A	XP_005262127.1:p.Pro1353=
XM_006724616.2:c.4068G>A	XP_006724679.1:p.Pro1356=
XM_011530849.1:c.3744G>A	XP_011529151.1:p.Pro1248=
XM_011530851.1:c.1641G>A	XP_011529153.1:p.Pro547=
XM_011530849.2:c.4083G>A	XP_011529151.2:p.Pro1361=
XM_017029259.2:c.4074G>A	XP_016884748.1:p.Pro1358=
XM_017029260.1:c.4065G>A	XP_016884749.1:p.Pro1355=
XM_017029263.2:c.2403G>A	XP_016884752.1:p.Pro801=
NM_000495.5:c.4050G>A	NP_000486.1:p.Pro1350=
NM_033380.3:c.4068G>A MANE Select	NP_203699.1:p.Pro1356=