Canonical Allele Identifier: CA413848992

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2098023
• ClinVar RCV Id: RCV003006498
• gnomAD v4: X-108668456-G-A
• MyVariant Identifiers: chrX:g.107911686G>A (hg19) ; chrX:g.108668456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668456G>A , CM000685.2:g.108668456G>A	GRCh38
NC_000023.10:g.107911686G>A , CM000685.1:g.107911686G>A	GRCh37
NC_000023.9:g.107798342G>A	NCBI36
NG_011977.1:g.233533G>A
NG_011977.2:g.233533G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3742G>A MANE Select	ENSP00000331902.7:p.Glu1248Lys
ENST00000361603.7:c.3742G>A	ENSP00000354505.2:p.Glu1248Lys
ENST00000328300.10:c.3742G>A	ENSP00000331902.6:p.Glu1248Lys
ENST00000361603.6:c.3742G>A	ENSP00000354505.2:p.Glu1248Lys
NM_000495.4:c.3742G>A	NP_000486.1:p.Glu1248Lys
NM_033380.2:c.3742G>A	NP_203699.1:p.Glu1248Lys
XM_005262070.2:c.3742G>A	XP_005262127.1:p.Glu1248Lys
XM_006724616.2:c.3742G>A	XP_006724679.1:p.Glu1248Lys
XM_011530849.1:c.3418G>A	XP_011529151.1:p.Glu1140Lys
XM_011530850.1:c.3742G>A	XP_011529152.1:p.Glu1248Lys
XM_011530851.1:c.1315G>A	XP_011529153.1:p.Glu439Lys
XM_011530849.2:c.3757G>A	XP_011529151.2:p.Glu1253Lys
XM_017029259.2:c.3757G>A	XP_016884748.1:p.Glu1253Lys
XM_017029260.1:c.3757G>A	XP_016884749.1:p.Glu1253Lys
XM_017029261.1:c.3757G>A	XP_016884750.1:p.Glu1253Lys
XM_017029262.2:c.3757G>A	XP_016884751.1:p.Glu1253Lys
XM_017029263.2:c.2077G>A	XP_016884752.1:p.Glu693Lys
NM_000495.5:c.3742G>A	NP_000486.1:p.Glu1248Lys
NM_033380.3:c.3742G>A MANE Select	NP_203699.1:p.Glu1248Lys