Canonical Allele Identifier: CA10489283

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 587188
• ClinVar RCV Id: RCV000902925 ; RCV001274534
• dbSNP Id: rs143020337
• ExAC: X:107924171 C / A
• gnomAD v2: X-107924171-C-A
• gnomAD v3: X-108680941-C-A
• gnomAD v4: X-108680941-C-A
• MyVariant Identifiers: chrX:g.107924171C>A (hg19) ; chrX:g.108680941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680941C>A , CM000685.2:g.108680941C>A	GRCh38
NC_000023.10:g.107924171C>A , CM000685.1:g.107924171C>A	GRCh37
NC_000023.9:g.107810827C>A	NCBI36
NG_011977.1:g.246018C>A
NG_011977.2:g.246018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4072C>A MANE Select	ENSP00000331902.7:p.Leu1358Ile
ENST00000361603.7:c.4054C>A	ENSP00000354505.2:p.Leu1352Ile
ENST00000510690.2:n.566C>A
ENST00000328300.10:c.4072C>A	ENSP00000331902.6:p.Leu1358Ile
ENST00000361603.6:c.4054C>A	ENSP00000354505.2:p.Leu1352Ile
ENST00000489230.1:n.475C>A
NM_000495.4:c.4054C>A	NP_000486.1:p.Leu1352Ile
NM_033380.2:c.4072C>A	NP_203699.1:p.Leu1358Ile
XM_005262070.2:c.4063C>A	XP_005262127.1:p.Leu1355Ile
XM_006724616.2:c.4072C>A	XP_006724679.1:p.Leu1358Ile
XM_011530849.1:c.3748C>A	XP_011529151.1:p.Leu1250Ile
XM_011530851.1:c.1645C>A	XP_011529153.1:p.Leu549Ile
XM_011530849.2:c.4087C>A	XP_011529151.2:p.Leu1363Ile
XM_017029259.2:c.4078C>A	XP_016884748.1:p.Leu1360Ile
XM_017029260.1:c.4069C>A	XP_016884749.1:p.Leu1357Ile
XM_017029263.2:c.2407C>A	XP_016884752.1:p.Leu803Ile
NM_000495.5:c.4054C>A	NP_000486.1:p.Leu1352Ile
NM_033380.3:c.4072C>A MANE Select	NP_203699.1:p.Leu1358Ile