Canonical Allele Identifier: CA340979

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 10466
• ClinVar RCV Id: RCV000011212 ; RCV000440813 ; RCV001195698 ; RCV003398479
• dbSNP Id: rs104886303
• ExAC: X:107938639 T / G
• MyVariant Identifiers: chrX:g.107938639T>G (hg19) ; chrX:g.108695409T>G (hg38)
• PubMed: PMID:8651292 ; PMID:9848783 ; PMID:11223851 ; PMID:18083113 ; PMID:19919694 ; PMID:20301386 ; PMID:27627812

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695409T>G , CM000685.2:g.108695409T>G	GRCh38
NC_000023.10:g.107938639T>G , CM000685.1:g.107938639T>G	GRCh37
NC_000023.9:g.107825295T>G	NCBI36
NG_011977.1:g.260486T>G
NG_011977.2:g.260486T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4964T>G MANE Select	ENSP00000331902.7:p.Leu1655Arg
ENST00000361603.7:c.4946T>G	ENSP00000354505.2:p.Leu1649Arg
ENST00000510690.2:n.1458T>G
ENST00000644079.1:n.1795T>G
ENST00000328300.10:c.4964T>G	ENSP00000331902.6:p.Leu1655Arg
ENST00000361603.6:c.4946T>G	ENSP00000354505.2:p.Leu1649Arg
ENST00000504541.1:c.219+488T>G	ENSP00000424845.1:n.219+488T>G
ENST00000515658.1:c.325-888T>G
NM_000495.4:c.4946T>G	NP_000486.1:p.Leu1649Arg
NM_033380.2:c.4964T>G	NP_203699.1:p.Leu1655Arg
XM_005262070.2:c.4955T>G	XP_005262127.1:p.Leu1652Arg
XM_006724616.2:c.4964T>G	XP_006724679.1:p.Leu1655Arg
XM_011530849.1:c.4640T>G	XP_011529151.1:p.Leu1547Arg
XM_011530851.1:c.2537T>G	XP_011529153.1:p.Leu846Arg
XM_011530849.2:c.4979T>G	XP_011529151.2:p.Leu1660Arg
XM_017029259.2:c.4970T>G	XP_016884748.1:p.Leu1657Arg
XM_017029260.1:c.4961T>G	XP_016884749.1:p.Leu1654Arg
XM_017029263.2:c.3299T>G	XP_016884752.1:p.Leu1100Arg
NM_000495.5:c.4946T>G	NP_000486.1:p.Leu1649Arg
NM_033380.3:c.4964T>G MANE Select	NP_203699.1:p.Leu1655Arg