Canonical Allele Identifier: CA517926145

Gene: COL4A5

Linked Data

• COSMIC: COSM1248881
• MyVariant Identifiers: chrX:g.107938634T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695404T>C , CM000685.2:g.108695404T>C	GRCh38
NC_000023.10:g.107938634T>C , CM000685.1:g.107938634T>C	GRCh37
NC_000023.9:g.107825290T>C	NCBI36
NG_011977.1:g.260481T>C
NG_011977.2:g.260481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4959T>C MANE Select	ENSP00000331902.7:p.Phe1653=
ENST00000361603.7:c.4941T>C	ENSP00000354505.2:p.Phe1647=
ENST00000510690.2:n.1453T>C
ENST00000644079.1:n.1790T>C
ENST00000328300.10:c.4959T>C	ENSP00000331902.6:p.Phe1653=
ENST00000361603.6:c.4941T>C	ENSP00000354505.2:p.Phe1647=
ENST00000504541.1:c.219+483T>C	ENSP00000424845.1:n.219+483T>C
ENST00000515658.1:c.325-893T>C
NM_000495.4:c.4941T>C	NP_000486.1:p.Phe1647=
NM_033380.2:c.4959T>C	NP_203699.1:p.Phe1653=
XM_005262070.2:c.4950T>C	XP_005262127.1:p.Phe1650=
XM_006724616.2:c.4959T>C	XP_006724679.1:p.Phe1653=
XM_011530849.1:c.4635T>C	XP_011529151.1:p.Phe1545=
XM_011530851.1:c.2532T>C	XP_011529153.1:p.Phe844=
XM_011530849.2:c.4974T>C	XP_011529151.2:p.Phe1658=
XM_017029259.2:c.4965T>C	XP_016884748.1:p.Phe1655=
XM_017029260.1:c.4956T>C	XP_016884749.1:p.Phe1652=
XM_017029263.2:c.3294T>C	XP_016884752.1:p.Phe1098=
NM_000495.5:c.4941T>C	NP_000486.1:p.Phe1647=
NM_033380.3:c.4959T>C MANE Select	NP_203699.1:p.Phe1653=