Canonical Allele Identifier: CA10489044

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2181096
• ClinVar RCV Id: RCV002605966
• dbSNP Id: rs770332090
• ExAC: X:107869541 A / G
• gnomAD v2: X-107869541-A-G
• gnomAD v3: X-108626311-A-G
• gnomAD v4: X-108626311-A-G
• MyVariant Identifiers: chrX:g.107869541A>G (hg19) ; chrX:g.108626311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626311A>G , CM000685.2:g.108626311A>G	GRCh38
NC_000023.10:g.107869541A>G , CM000685.1:g.107869541A>G	GRCh37
NC_000023.9:g.107756197A>G	NCBI36
NG_011977.1:g.191388A>G
NG_011977.2:g.191388A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3208A>G MANE Select	ENSP00000331902.7:p.Ile1070Val
ENST00000361603.7:c.3208A>G	ENSP00000354505.2:p.Ile1070Val
ENST00000328300.10:c.3208A>G	ENSP00000331902.6:p.Ile1070Val
ENST00000361603.6:c.3208A>G	ENSP00000354505.2:p.Ile1070Val
ENST00000483338.1:n.2664A>G
ENST00000505728.1:c.441A>G
NM_000495.4:c.3208A>G	NP_000486.1:p.Ile1070Val
NM_033380.2:c.3208A>G	NP_203699.1:p.Ile1070Val
XM_005262070.2:c.3208A>G	XP_005262127.1:p.Ile1070Val
XM_005262072.3:c.3208A>G	XP_005262129.1:p.Ile1070Val
XM_006724616.2:c.3208A>G	XP_006724679.1:p.Ile1070Val
XM_011530849.1:c.2884A>G	XP_011529151.1:p.Ile962Val
XM_011530850.1:c.3208A>G	XP_011529152.1:p.Ile1070Val
XM_011530851.1:c.781A>G	XP_011529153.1:p.Ile261Val
XM_011530849.2:c.3223A>G	XP_011529151.2:p.Ile1075Val
XM_017029259.2:c.3223A>G	XP_016884748.1:p.Ile1075Val
XM_017029260.1:c.3223A>G	XP_016884749.1:p.Ile1075Val
XM_017029261.1:c.3223A>G	XP_016884750.1:p.Ile1075Val
XM_017029262.2:c.3223A>G	XP_016884751.1:p.Ile1075Val
XM_017029263.2:c.1543A>G	XP_016884752.1:p.Ile515Val
NM_000495.5:c.3208A>G	NP_000486.1:p.Ile1070Val
NM_033380.3:c.3208A>G MANE Select	NP_203699.1:p.Ile1070Val