Canonical Allele Identifier: CA413853844

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 562348
• ClinVar RCV Id: RCV000681802
• dbSNP Id: rs1569508169
• MyVariant Identifiers: chrX:g.107929359G>C (hg19) ; chrX:g.108686129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686129G>C , CM000685.2:g.108686129G>C	GRCh38
NC_000023.10:g.107929359G>C , CM000685.1:g.107929359G>C	GRCh37
NC_000023.9:g.107816015G>C	NCBI36
NG_011977.1:g.251206G>C
NG_011977.2:g.251206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4315G>C MANE Select	ENSP00000331902.7:p.Gly1439Arg
ENST00000361603.7:c.4297G>C	ENSP00000354505.2:p.Gly1433Arg
ENST00000510690.2:n.809G>C
ENST00000328300.10:c.4315G>C	ENSP00000331902.6:p.Gly1439Arg
ENST00000361603.6:c.4297G>C	ENSP00000354505.2:p.Gly1433Arg
ENST00000489230.1:n.718G>C
ENST00000515658.1:c.111G>C
NM_000495.4:c.4297G>C	NP_000486.1:p.Gly1433Arg
NM_033380.2:c.4315G>C	NP_203699.1:p.Gly1439Arg
XM_005262070.2:c.4306G>C	XP_005262127.1:p.Gly1436Arg
XM_006724616.2:c.4315G>C	XP_006724679.1:p.Gly1439Arg
XM_011530849.1:c.3991G>C	XP_011529151.1:p.Gly1331Arg
XM_011530851.1:c.1888G>C	XP_011529153.1:p.Gly630Arg
XM_011530849.2:c.4330G>C	XP_011529151.2:p.Gly1444Arg
XM_017029259.2:c.4321G>C	XP_016884748.1:p.Gly1441Arg
XM_017029260.1:c.4312G>C	XP_016884749.1:p.Gly1438Arg
XM_017029263.2:c.2650G>C	XP_016884752.1:p.Gly884Arg
NM_000495.5:c.4297G>C	NP_000486.1:p.Gly1433Arg
NM_033380.3:c.4315G>C MANE Select	NP_203699.1:p.Gly1439Arg