Canonical Allele Identifier: CA414132458

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1678593
• ClinVar RCV Id: RCV002225194
• dbSNP Id: rs2148001550
• MyVariant Identifiers: chrX:g.107938075T>C (hg19) ; chrX:g.108694845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694845T>C , CM000685.2:g.108694845T>C	GRCh38
NC_000023.10:g.107938075T>C , CM000685.1:g.107938075T>C	GRCh37
NC_000023.9:g.107824731T>C	NCBI36
NG_011977.1:g.259922T>C
NG_011977.2:g.259922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4745T>C MANE Select	ENSP00000331902.7:p.Val1582Ala
ENST00000361603.7:c.4727T>C	ENSP00000354505.2:p.Val1576Ala
ENST00000510690.2:n.1239T>C
ENST00000644079.1:n.1231T>C
ENST00000328300.10:c.4745T>C	ENSP00000331902.6:p.Val1582Ala
ENST00000361603.6:c.4727T>C	ENSP00000354505.2:p.Val1576Ala
ENST00000504541.1:c.143T>C	ENSP00000424845.1:p.Val48Ala
ENST00000515658.1:c.325-1452T>C
NM_000495.4:c.4727T>C	NP_000486.1:p.Val1576Ala
NM_033380.2:c.4745T>C	NP_203699.1:p.Val1582Ala
XM_005262070.2:c.4736T>C	XP_005262127.1:p.Val1579Ala
XM_006724616.2:c.4745T>C	XP_006724679.1:p.Val1582Ala
XM_011530849.1:c.4421T>C	XP_011529151.1:p.Val1474Ala
XM_011530851.1:c.2318T>C	XP_011529153.1:p.Val773Ala
XM_011530849.2:c.4760T>C	XP_011529151.2:p.Val1587Ala
XM_017029259.2:c.4751T>C	XP_016884748.1:p.Val1584Ala
XM_017029260.1:c.4742T>C	XP_016884749.1:p.Val1581Ala
XM_017029263.2:c.3080T>C	XP_016884752.1:p.Val1027Ala
NM_000495.5:c.4727T>C	NP_000486.1:p.Val1576Ala
NM_033380.3:c.4745T>C MANE Select	NP_203699.1:p.Val1582Ala