Canonical Allele Identifier: CA340981

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 10467
• ClinVar RCV Id: RCV000011213 ; RCV000518046 ; RCV001328066 ; RCV003934823
• dbSNP Id: rs104886308
• ExAC: X:107939580 G / A
• gnomAD v2: X-107939580-G-A
• gnomAD v4: X-108696350-G-A
• COSMIC: COSM1112936
• MyVariant Identifiers: chrX:g.107939580G>A (hg19) ; chrX:g.108696350G>A (hg38)
• PubMed: PMID:9150741 ; PMID:12796257 ; PMID:14604828 ; PMID:18083113 ; PMID:19919694 ; PMID:20130921 ; PMID:20301386 ; PMID:20378821 ; PMID:21848006

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696350G>A , CM000685.2:g.108696350G>A	GRCh38
NC_000023.10:g.107939580G>A , CM000685.1:g.107939580G>A	GRCh37
NC_000023.9:g.107826236G>A	NCBI36
NG_011977.1:g.261427G>A
NG_011977.2:g.261427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5048G>A MANE Select	ENSP00000331902.7:p.Arg1683Gln
ENST00000361603.7:c.5030G>A	ENSP00000354505.2:p.Arg1677Gln
ENST00000510690.2:n.1542G>A
ENST00000644079.1:n.2736G>A
ENST00000328300.10:c.5048G>A	ENSP00000331902.6:p.Arg1683Gln
ENST00000361603.6:c.5030G>A	ENSP00000354505.2:p.Arg1677Gln
ENST00000504541.1:c.273G>A	ENSP00000424845.1:n.273G>A
ENST00000515658.1:c.378G>A
NM_000495.4:c.5030G>A	NP_000486.1:p.Arg1677Gln
NM_033380.2:c.5048G>A	NP_203699.1:p.Arg1683Gln
XM_005262070.2:c.5039G>A	XP_005262127.1:p.Arg1680Gln
XM_006724616.2:c.5048G>A	XP_006724679.1:p.Arg1683Gln
XM_011530849.1:c.4724G>A	XP_011529151.1:p.Arg1575Gln
XM_011530851.1:c.2621G>A	XP_011529153.1:p.Arg874Gln
XM_011530849.2:c.5063G>A	XP_011529151.2:p.Arg1688Gln
XM_017029259.2:c.5054G>A	XP_016884748.1:p.Arg1685Gln
XM_017029260.1:c.5045G>A	XP_016884749.1:p.Arg1682Gln
XM_017029263.2:c.3383G>A	XP_016884752.1:p.Arg1128Gln
NM_000495.5:c.5030G>A	NP_000486.1:p.Arg1677Gln
NM_033380.3:c.5048G>A MANE Select	NP_203699.1:p.Arg1683Gln