Canonical Allele Identifier: CA517923670

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2813382
• ClinVar RCV Id: RCV003677966
• dbSNP Id: rs923186153
• gnomAD v2: X-107924164-A-G
• gnomAD v4: X-108680934-A-G
• MyVariant Identifiers: chrX:g.107924164A>G (hg19) ; chrX:g.108680934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680934A>G , CM000685.2:g.108680934A>G	GRCh38
NC_000023.10:g.107924164A>G , CM000685.1:g.107924164A>G	GRCh37
NC_000023.9:g.107810820A>G	NCBI36
NG_011977.1:g.246011A>G
NG_011977.2:g.246011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4065A>G MANE Select	ENSP00000331902.7:p.Glu1355=
ENST00000361603.7:c.4047A>G	ENSP00000354505.2:p.Glu1349=
ENST00000510690.2:n.559A>G
ENST00000328300.10:c.4065A>G	ENSP00000331902.6:p.Glu1355=
ENST00000361603.6:c.4047A>G	ENSP00000354505.2:p.Glu1349=
ENST00000489230.1:n.468A>G
NM_000495.4:c.4047A>G	NP_000486.1:p.Glu1349=
NM_033380.2:c.4065A>G	NP_203699.1:p.Glu1355=
XM_005262070.2:c.4056A>G	XP_005262127.1:p.Glu1352=
XM_006724616.2:c.4065A>G	XP_006724679.1:p.Glu1355=
XM_011530849.1:c.3741A>G	XP_011529151.1:p.Glu1247=
XM_011530851.1:c.1638A>G	XP_011529153.1:p.Glu546=
XM_011530849.2:c.4080A>G	XP_011529151.2:p.Glu1360=
XM_017029259.2:c.4071A>G	XP_016884748.1:p.Glu1357=
XM_017029260.1:c.4062A>G	XP_016884749.1:p.Glu1354=
XM_017029263.2:c.2400A>G	XP_016884752.1:p.Glu800=
NM_000495.5:c.4047A>G	NP_000486.1:p.Glu1349=
NM_033380.3:c.4065A>G MANE Select	NP_203699.1:p.Glu1355=