Canonical Allele Identifier: CA517923788

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 3063846
• ClinVar RCV Id: RCV003988434
• MyVariant Identifiers: chrX:g.107924994T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681764T>C , CM000685.2:g.108681764T>C	GRCh38
NC_000023.10:g.107924994T>C , CM000685.1:g.107924994T>C	GRCh37
NC_000023.9:g.107811650T>C	NCBI36
NG_011977.1:g.246841T>C
NG_011977.2:g.246841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4092T>C MANE Select	ENSP00000331902.7:p.Pro1364=
ENST00000361603.7:c.4074T>C	ENSP00000354505.2:p.Pro1358=
ENST00000510690.2:n.586T>C
ENST00000328300.10:c.4092T>C	ENSP00000331902.6:p.Pro1364=
ENST00000361603.6:c.4074T>C	ENSP00000354505.2:p.Pro1358=
ENST00000489230.1:n.495T>C
NM_000495.4:c.4074T>C	NP_000486.1:p.Pro1358=
NM_033380.2:c.4092T>C	NP_203699.1:p.Pro1364=
XM_005262070.2:c.4083T>C	XP_005262127.1:p.Pro1361=
XM_006724616.2:c.4092T>C	XP_006724679.1:p.Pro1364=
XM_011530849.1:c.3768T>C	XP_011529151.1:p.Pro1256=
XM_011530851.1:c.1665T>C	XP_011529153.1:p.Pro555=
XM_011530849.2:c.4107T>C	XP_011529151.2:p.Pro1369=
XM_017029259.2:c.4098T>C	XP_016884748.1:p.Pro1366=
XM_017029260.1:c.4089T>C	XP_016884749.1:p.Pro1363=
XM_017029263.2:c.2427T>C	XP_016884752.1:p.Pro809=
NM_000495.5:c.4074T>C	NP_000486.1:p.Pro1358=
NM_033380.3:c.4092T>C MANE Select	NP_203699.1:p.Pro1364=