Canonical Allele Identifier: CA413854059

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2737353
• ClinVar RCV Id: RCV003560294
• gnomAD v4: X-108687526-G-C
• MyVariant Identifiers: chrX:g.107930756G>C (hg19) ; chrX:g.108687526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687526G>C , CM000685.2:g.108687526G>C	GRCh38
NC_000023.10:g.107930756G>C , CM000685.1:g.107930756G>C	GRCh37
NC_000023.9:g.107817412G>C	NCBI36
NG_011977.1:g.252603G>C
NG_011977.2:g.252603G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4360G>C MANE Select	ENSP00000331902.7:p.Gly1454Arg
ENST00000361603.7:c.4342G>C	ENSP00000354505.2:p.Gly1448Arg
ENST00000510690.2:n.854G>C
ENST00000328300.10:c.4360G>C	ENSP00000331902.6:p.Gly1454Arg
ENST00000361603.6:c.4342G>C	ENSP00000354505.2:p.Gly1448Arg
ENST00000515658.1:c.156G>C
NM_000495.4:c.4342G>C	NP_000486.1:p.Gly1448Arg
NM_033380.2:c.4360G>C	NP_203699.1:p.Gly1454Arg
XM_005262070.2:c.4351G>C	XP_005262127.1:p.Gly1451Arg
XM_006724616.2:c.4360G>C	XP_006724679.1:p.Gly1454Arg
XM_011530849.1:c.4036G>C	XP_011529151.1:p.Gly1346Arg
XM_011530851.1:c.1933G>C	XP_011529153.1:p.Gly645Arg
XM_011530849.2:c.4375G>C	XP_011529151.2:p.Gly1459Arg
XM_017029259.2:c.4366G>C	XP_016884748.1:p.Gly1456Arg
XM_017029260.1:c.4357G>C	XP_016884749.1:p.Gly1453Arg
XM_017029263.2:c.2695G>C	XP_016884752.1:p.Gly899Arg
NM_000495.5:c.4342G>C	NP_000486.1:p.Gly1448Arg
NM_033380.3:c.4360G>C MANE Select	NP_203699.1:p.Gly1454Arg