Canonical Allele Identifier: CA259099

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1508349
• ClinVar RCV Id: RCV002013926 ; RCV002498036
• dbSNP Id: rs281874747
• MyVariant Identifiers: chrX:g.107938099C>T (hg19) ; chrX:g.108694869C>T (hg38)
• PubMed: PMID:19919694

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694869C>T , CM000685.2:g.108694869C>T	GRCh38
NC_000023.10:g.107938099C>T , CM000685.1:g.107938099C>T	GRCh37
NC_000023.9:g.107824755C>T	NCBI36
NG_011977.1:g.259946C>T
NG_011977.2:g.259946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4769C>T MANE Select	ENSP00000331902.7:p.Pro1590Leu
ENST00000361603.7:c.4751C>T	ENSP00000354505.2:p.Pro1584Leu
ENST00000510690.2:n.1263C>T
ENST00000644079.1:n.1255C>T
ENST00000328300.10:c.4769C>T	ENSP00000331902.6:p.Pro1590Leu
ENST00000361603.6:c.4751C>T	ENSP00000354505.2:p.Pro1584Leu
ENST00000504541.1:c.167C>T	ENSP00000424845.1:p.Pro56Leu
ENST00000515658.1:c.325-1428C>T
NM_000495.4:c.4751C>T	NP_000486.1:p.Pro1584Leu
NM_033380.2:c.4769C>T	NP_203699.1:p.Pro1590Leu
XM_005262070.2:c.4760C>T	XP_005262127.1:p.Pro1587Leu
XM_006724616.2:c.4769C>T	XP_006724679.1:p.Pro1590Leu
XM_011530849.1:c.4445C>T	XP_011529151.1:p.Pro1482Leu
XM_011530851.1:c.2342C>T	XP_011529153.1:p.Pro781Leu
XM_011530849.2:c.4784C>T	XP_011529151.2:p.Pro1595Leu
XM_017029259.2:c.4775C>T	XP_016884748.1:p.Pro1592Leu
XM_017029260.1:c.4766C>T	XP_016884749.1:p.Pro1589Leu
XM_017029263.2:c.3104C>T	XP_016884752.1:p.Pro1035Leu
NM_000495.5:c.4751C>T	NP_000486.1:p.Pro1584Leu
NM_033380.3:c.4769C>T MANE Select	NP_203699.1:p.Pro1590Leu