Canonical Allele Identifier: CA259134

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24780
• ClinVar RCV Id: RCV000021659 ; RCV001389981
• dbSNP Id: rs104886302
• MyVariant Identifiers: chrX:g.107938606G>A (hg19) ; chrX:g.108695376G>A (hg38)
• PubMed: PMID:17277342

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695376G>A , CM000685.2:g.108695376G>A	GRCh38
NC_000023.10:g.107938606G>A , CM000685.1:g.107938606G>A	GRCh37
NC_000023.9:g.107825262G>A	NCBI36
NG_011977.1:g.260453G>A
NG_011977.2:g.260453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4931G>A MANE Select	ENSP00000331902.7:p.Cys1644Tyr
ENST00000361603.7:c.4913G>A	ENSP00000354505.2:p.Cys1638Tyr
ENST00000510690.2:n.1425G>A
ENST00000644079.1:n.1762G>A
ENST00000328300.10:c.4931G>A	ENSP00000331902.6:p.Cys1644Tyr
ENST00000361603.6:c.4913G>A	ENSP00000354505.2:p.Cys1638Tyr
ENST00000504541.1:c.219+455G>A	ENSP00000424845.1:n.219+455G>A
ENST00000515658.1:c.325-921G>A
NM_000495.4:c.4913G>A	NP_000486.1:p.Cys1638Tyr
NM_033380.2:c.4931G>A	NP_203699.1:p.Cys1644Tyr
XM_005262070.2:c.4922G>A	XP_005262127.1:p.Cys1641Tyr
XM_006724616.2:c.4931G>A	XP_006724679.1:p.Cys1644Tyr
XM_011530849.1:c.4607G>A	XP_011529151.1:p.Cys1536Tyr
XM_011530851.1:c.2504G>A	XP_011529153.1:p.Cys835Tyr
XM_011530849.2:c.4946G>A	XP_011529151.2:p.Cys1649Tyr
XM_017029259.2:c.4937G>A	XP_016884748.1:p.Cys1646Tyr
XM_017029260.1:c.4928G>A	XP_016884749.1:p.Cys1643Tyr
XM_017029263.2:c.3266G>A	XP_016884752.1:p.Cys1089Tyr
NM_000495.5:c.4913G>A	NP_000486.1:p.Cys1638Tyr
NM_033380.3:c.4931G>A MANE Select	NP_203699.1:p.Cys1644Tyr