Canonical Allele Identifier: CA413853929

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1607928
• ClinVar RCV Id: RCV002162791
• dbSNP Id: rs1225113105
• gnomAD v2: X-107930718-G-A
• gnomAD v4: X-108687488-G-A
• MyVariant Identifiers: chrX:g.107930718G>A (hg19) ; chrX:g.108687488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687488G>A , CM000685.2:g.108687488G>A	GRCh38
NC_000023.10:g.107930718G>A , CM000685.1:g.107930718G>A	GRCh37
NC_000023.9:g.107817374G>A	NCBI36
NG_011977.1:g.252565G>A
NG_011977.2:g.252565G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4322G>A MANE Select	ENSP00000331902.7:p.Arg1441His
ENST00000361603.7:c.4304G>A	ENSP00000354505.2:p.Arg1435His
ENST00000510690.2:n.816G>A
ENST00000328300.10:c.4322G>A	ENSP00000331902.6:p.Arg1441His
ENST00000361603.6:c.4304G>A	ENSP00000354505.2:p.Arg1435His
ENST00000489230.1:n.725G>A
ENST00000515658.1:c.118G>A
NM_000495.4:c.4304G>A	NP_000486.1:p.Arg1435His
NM_033380.2:c.4322G>A	NP_203699.1:p.Arg1441His
XM_005262070.2:c.4313G>A	XP_005262127.1:p.Arg1438His
XM_006724616.2:c.4322G>A	XP_006724679.1:p.Arg1441His
XM_011530849.1:c.3998G>A	XP_011529151.1:p.Arg1333His
XM_011530851.1:c.1895G>A	XP_011529153.1:p.Arg632His
XM_011530849.2:c.4337G>A	XP_011529151.2:p.Arg1446His
XM_017029259.2:c.4328G>A	XP_016884748.1:p.Arg1443His
XM_017029260.1:c.4319G>A	XP_016884749.1:p.Arg1440His
XM_017029263.2:c.2657G>A	XP_016884752.1:p.Arg886His
NM_000495.5:c.4304G>A	NP_000486.1:p.Arg1435His
NM_033380.3:c.4322G>A MANE Select	NP_203699.1:p.Arg1441His