Canonical Allele Identifier: CA10488482

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1156392
• ClinVar RCV Id: RCV001499040
• dbSNP Id: rs779710778
• ExAC: X:107816893 C / A
• gnomAD v2: X-107816893-C-A
• gnomAD v3: X-108573663-C-A
• gnomAD v4: X-108573663-C-A
• MyVariant Identifiers: chrX:g.107816893C>A (hg19) ; chrX:g.108573663C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108573663C>A , CM000685.2:g.108573663C>A	GRCh38
NC_000023.10:g.107816893C>A , CM000685.1:g.107816893C>A	GRCh37
NC_000023.9:g.107703549C>A	NCBI36
NG_011977.1:g.138740C>A
NG_011977.2:g.138740C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.546+9C>A MANE Select	ENSP00000331902.7:n.546+9C>A
ENST00000361603.7:c.546+9C>A	ENSP00000354505.2:n.546+9C>A
ENST00000328300.10:c.546+9C>A	ENSP00000331902.6:n.546+9C>A
ENST00000361603.6:c.546+9C>A	ENSP00000354505.2:n.546+9C>A
NM_000495.4:c.546+9C>A	NP_000486.1:n.546+9C>A
NM_033380.2:c.546+9C>A	NP_203699.1:n.546+9C>A
XM_005262070.2:c.546+9C>A	XP_005262127.1:n.546+9C>A
XM_005262072.3:c.546+9C>A	XP_005262129.1:n.546+9C>A
XM_006724616.2:c.546+9C>A	XP_006724679.1:n.546+9C>A
XM_011530849.1:c.222+9C>A	XP_011529151.1:n.222+9C>A
XM_011530850.1:c.546+9C>A	XP_011529152.1:n.546+9C>A
XM_011530849.2:c.561+9C>A	XP_011529151.2:n.561+9C>A
XM_017029259.2:c.561+9C>A	XP_016884748.1:n.561+9C>A
XM_017029260.1:c.561+9C>A	XP_016884749.1:n.561+9C>A
XM_017029261.1:c.561+9C>A	XP_016884750.1:n.561+9C>A
XM_017029262.2:c.561+9C>A	XP_016884751.1:n.561+9C>A
NM_000495.5:c.546+9C>A	NP_000486.1:n.546+9C>A
NM_033380.3:c.546+9C>A MANE Select	NP_203699.1:n.546+9C>A