Canonical Allele Identifier: CA334063387

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 982702
• ClinVar RCV Id: RCV001262335
• dbSNP Id: rs866393484
• MyVariant Identifiers: chrX:g.107938605T>C (hg19) ; chrX:g.108695375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695375T>C , CM000685.2:g.108695375T>C	GRCh38
NC_000023.10:g.107938605T>C , CM000685.1:g.107938605T>C	GRCh37
NC_000023.9:g.107825261T>C	NCBI36
NG_011977.1:g.260452T>C
NG_011977.2:g.260452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4930T>C MANE Select	ENSP00000331902.7:p.Cys1644Arg
ENST00000361603.7:c.4912T>C	ENSP00000354505.2:p.Cys1638Arg
ENST00000510690.2:n.1424T>C
ENST00000644079.1:n.1761T>C
ENST00000328300.10:c.4930T>C	ENSP00000331902.6:p.Cys1644Arg
ENST00000361603.6:c.4912T>C	ENSP00000354505.2:p.Cys1638Arg
ENST00000504541.1:c.219+454T>C	ENSP00000424845.1:n.219+454T>C
ENST00000515658.1:c.325-922T>C
NM_000495.4:c.4912T>C	NP_000486.1:p.Cys1638Arg
NM_033380.2:c.4930T>C	NP_203699.1:p.Cys1644Arg
XM_005262070.2:c.4921T>C	XP_005262127.1:p.Cys1641Arg
XM_006724616.2:c.4930T>C	XP_006724679.1:p.Cys1644Arg
XM_011530849.1:c.4606T>C	XP_011529151.1:p.Cys1536Arg
XM_011530851.1:c.2503T>C	XP_011529153.1:p.Cys835Arg
XM_011530849.2:c.4945T>C	XP_011529151.2:p.Cys1649Arg
XM_017029259.2:c.4936T>C	XP_016884748.1:p.Cys1646Arg
XM_017029260.1:c.4927T>C	XP_016884749.1:p.Cys1643Arg
XM_017029263.2:c.3265T>C	XP_016884752.1:p.Cys1089Arg
NM_000495.5:c.4912T>C	NP_000486.1:p.Cys1638Arg
NM_033380.3:c.4930T>C MANE Select	NP_203699.1:p.Cys1644Arg