Canonical Allele Identifier: CA517923876

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1138856
• ClinVar RCV Id: RCV001475344
• dbSNP Id: rs2147982304
• gnomAD v4: X-108681869-A-G
• MyVariant Identifiers: chrX:g.107925099A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681869A>G , CM000685.2:g.108681869A>G	GRCh38
NC_000023.10:g.107925099A>G , CM000685.1:g.107925099A>G	GRCh37
NC_000023.9:g.107811755A>G	NCBI36
NG_011977.1:g.246946A>G
NG_011977.2:g.246946A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4197A>G MANE Select	ENSP00000331902.7:p.Gln1399=
ENST00000361603.7:c.4179A>G	ENSP00000354505.2:p.Gln1393=
ENST00000510690.2:n.691A>G
ENST00000328300.10:c.4197A>G	ENSP00000331902.6:p.Gln1399=
ENST00000361603.6:c.4179A>G	ENSP00000354505.2:p.Gln1393=
ENST00000489230.1:n.600A>G
NM_000495.4:c.4179A>G	NP_000486.1:p.Gln1393=
NM_033380.2:c.4197A>G	NP_203699.1:p.Gln1399=
XM_005262070.2:c.4188A>G	XP_005262127.1:p.Gln1396=
XM_006724616.2:c.4197A>G	XP_006724679.1:p.Gln1399=
XM_011530849.1:c.3873A>G	XP_011529151.1:p.Gln1291=
XM_011530851.1:c.1770A>G	XP_011529153.1:p.Gln590=
XM_011530849.2:c.4212A>G	XP_011529151.2:p.Gln1404=
XM_017029259.2:c.4203A>G	XP_016884748.1:p.Gln1401=
XM_017029260.1:c.4194A>G	XP_016884749.1:p.Gln1398=
XM_017029263.2:c.2532A>G	XP_016884752.1:p.Gln844=
NM_000495.5:c.4179A>G	NP_000486.1:p.Gln1393=
NM_033380.3:c.4197A>G MANE Select	NP_203699.1:p.Gln1399=