Canonical Allele Identifier: CA258641

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24499
• ClinVar RCV Id: RCV001588821 ; RCV002476999
• dbSNP Id: rs281874688
• MyVariant Identifiers: chrX:g.107846292G>T (hg19) ; chrX:g.108603062G>T (hg38)
• PubMed: PMID:20378821

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108603062G>T , CM000685.2:g.108603062G>T	GRCh38
NC_000023.10:g.107846292G>T , CM000685.1:g.107846292G>T	GRCh37
NC_000023.9:g.107732948G>T	NCBI36
NG_011977.1:g.168139G>T
NG_011977.2:g.168139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2244+1G>T MANE Select	ENSP00000331902.7:n.2244+1G>T
ENST00000361603.7:c.2244+1G>T	ENSP00000354505.2:n.2244+1G>T
ENST00000328300.10:c.2244+1G>T	ENSP00000331902.6:n.2244+1G>T
ENST00000361603.6:c.2244+1G>T	ENSP00000354505.2:n.2244+1G>T
ENST00000483338.1:n.1700+1G>T
NM_000495.4:c.2244+1G>T	NP_000486.1:n.2244+1G>T
NM_033380.2:c.2244+1G>T	NP_203699.1:n.2244+1G>T
XM_005262070.2:c.2244+1G>T	XP_005262127.1:n.2244+1G>T
XM_005262072.3:c.2244+1G>T	XP_005262129.1:n.2244+1G>T
XM_006724616.2:c.2244+1G>T	XP_006724679.1:n.2244+1G>T
XM_011530849.1:c.1920+1G>T	XP_011529151.1:n.1920+1G>T
XM_011530850.1:c.2244+1G>T	XP_011529152.1:n.2244+1G>T
XM_011530851.1:c.-33+1G>T	XP_011529153.1:n.-33+1G>T
XM_011530849.2:c.2259+1G>T	XP_011529151.2:n.2259+1G>T
XM_017029259.2:c.2259+1G>T	XP_016884748.1:n.2259+1G>T
XM_017029260.1:c.2259+1G>T	XP_016884749.1:n.2259+1G>T
XM_017029261.1:c.2259+1G>T	XP_016884750.1:n.2259+1G>T
XM_017029262.2:c.2259+1G>T	XP_016884751.1:n.2259+1G>T
XM_017029263.2:c.579+1G>T	XP_016884752.1:n.579+1G>T
NM_000495.5:c.2244+1G>T	NP_000486.1:n.2244+1G>T
NM_033380.3:c.2244+1G>T MANE Select	NP_203699.1:n.2244+1G>T