Canonical Allele Identifier: CA342587

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24761
• ClinVar RCV Id: RCV000021640 ; RCV001047411
• dbSNP Id: rs104886287
• MyVariant Identifiers: chrX:g.107938039G>C (hg19) ; chrX:g.108694809G>C (hg38)
• PubMed: PMID:1672282 ; PMID:20301386

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694809G>C , CM000685.2:g.108694809G>C	GRCh38
NC_000023.10:g.107938039G>C , CM000685.1:g.107938039G>C	GRCh37
NC_000023.9:g.107824695G>C	NCBI36
NG_011977.1:g.259886G>C
NG_011977.2:g.259886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4709G>C MANE Select	ENSP00000331902.7:p.Cys1570Ser
ENST00000361603.7:c.4691G>C	ENSP00000354505.2:p.Cys1564Ser
ENST00000510690.2:n.1203G>C
ENST00000644079.1:n.1195G>C
ENST00000328300.10:c.4709G>C	ENSP00000331902.6:p.Cys1570Ser
ENST00000361603.6:c.4691G>C	ENSP00000354505.2:p.Cys1564Ser
ENST00000504541.1:c.107G>C	ENSP00000424845.1:p.Cys36Ser
ENST00000515658.1:c.325-1488G>C
NM_000495.4:c.4691G>C	NP_000486.1:p.Cys1564Ser
NM_033380.2:c.4709G>C	NP_203699.1:p.Cys1570Ser
XM_005262070.2:c.4700G>C	XP_005262127.1:p.Cys1567Ser
XM_006724616.2:c.4709G>C	XP_006724679.1:p.Cys1570Ser
XM_011530849.1:c.4385G>C	XP_011529151.1:p.Cys1462Ser
XM_011530851.1:c.2282G>C	XP_011529153.1:p.Cys761Ser
XM_011530849.2:c.4724G>C	XP_011529151.2:p.Cys1575Ser
XM_017029259.2:c.4715G>C	XP_016884748.1:p.Cys1572Ser
XM_017029260.1:c.4706G>C	XP_016884749.1:p.Cys1569Ser
XM_017029263.2:c.3044G>C	XP_016884752.1:p.Cys1015Ser
NM_000495.5:c.4691G>C	NP_000486.1:p.Cys1564Ser
NM_033380.3:c.4709G>C MANE Select	NP_203699.1:p.Cys1570Ser