Canonical Allele Identifier: CA10489278

Gene: COL4A5

Linked Data

• dbSNP Id: rs370503436
• ExAC: X:107924135 G / A
• gnomAD v2: X-107924135-G-A
• MyVariant Identifiers: chrX:g.107924135G>A (hg19) ; chrX:g.108680905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680905G>A , CM000685.2:g.108680905G>A	GRCh38
NC_000023.10:g.107924135G>A , CM000685.1:g.107924135G>A	GRCh37
NC_000023.9:g.107810791G>A	NCBI36
NG_011977.1:g.245982G>A
NG_011977.2:g.245982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4036G>A MANE Select	ENSP00000331902.7:p.Val1346Ile
ENST00000361603.7:c.4018G>A	ENSP00000354505.2:p.Val1340Ile
ENST00000510690.2:n.530G>A
ENST00000328300.10:c.4036G>A	ENSP00000331902.6:p.Val1346Ile
ENST00000361603.6:c.4018G>A	ENSP00000354505.2:p.Val1340Ile
ENST00000489230.1:n.439G>A
NM_000495.4:c.4018G>A	NP_000486.1:p.Val1340Ile
NM_033380.2:c.4036G>A	NP_203699.1:p.Val1346Ile
XM_005262070.2:c.4027G>A	XP_005262127.1:p.Val1343Ile
XM_006724616.2:c.4036G>A	XP_006724679.1:p.Val1346Ile
XM_011530849.1:c.3712G>A	XP_011529151.1:p.Val1238Ile
XM_011530851.1:c.1609G>A	XP_011529153.1:p.Val537Ile
XM_011530849.2:c.4051G>A	XP_011529151.2:p.Val1351Ile
XM_017029259.2:c.4042G>A	XP_016884748.1:p.Val1348Ile
XM_017029260.1:c.4033G>A	XP_016884749.1:p.Val1345Ile
XM_017029263.2:c.2371G>A	XP_016884752.1:p.Val791Ile
NM_000495.5:c.4018G>A	NP_000486.1:p.Val1340Ile
NM_033380.3:c.4036G>A MANE Select	NP_203699.1:p.Val1346Ile