Canonical Allele Identifier: CA276135

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 209142
• ClinVar RCV Id: RCV000191073
• dbSNP Id: rs797045035
• MyVariant Identifiers: chrX:g.107924114G>A (hg19) ; chrX:g.108680884G>A (hg38)
• PubMed: PMID:17660027 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680884G>A , CM000685.2:g.108680884G>A	GRCh38
NC_000023.10:g.107924114G>A , CM000685.1:g.107924114G>A	GRCh37
NC_000023.9:g.107810770G>A	NCBI36
NG_011977.1:g.245961G>A
NG_011977.2:g.245961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4016-1G>A MANE Select	ENSP00000331902.7:n.4016-1G>A
ENST00000361603.7:c.3998-1G>A	ENSP00000354505.2:n.3998-1G>A
ENST00000510690.2:n.510-1G>A
ENST00000328300.10:c.4016-1G>A	ENSP00000331902.6:n.4016-1G>A
ENST00000361603.6:c.3998-1G>A	ENSP00000354505.2:n.3998-1G>A
ENST00000489230.1:n.419-1G>A
NM_000495.4:c.3998-1G>A	NP_000486.1:n.3998-1G>A
NM_033380.2:c.4016-1G>A	NP_203699.1:n.4016-1G>A
XM_005262070.2:c.4007-1G>A	XP_005262127.1:n.4007-1G>A
XM_006724616.2:c.4016-1G>A	XP_006724679.1:n.4016-1G>A
XM_011530849.1:c.3692-1G>A	XP_011529151.1:n.3692-1G>A
XM_011530851.1:c.1589-1G>A	XP_011529153.1:n.1589-1G>A
XM_011530849.2:c.4031-1G>A	XP_011529151.2:n.4031-1G>A
XM_017029259.2:c.4022-1G>A	XP_016884748.1:n.4022-1G>A
XM_017029260.1:c.4013-1G>A	XP_016884749.1:n.4013-1G>A
XM_017029263.2:c.2351-1G>A	XP_016884752.1:n.2351-1G>A
NM_000495.5:c.3998-1G>A	NP_000486.1:n.3998-1G>A
NM_033380.3:c.4016-1G>A MANE Select	NP_203699.1:n.4016-1G>A