Canonical Allele Identifier: CA259021

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24725
• ClinVar RCV Id: RCV000021604 ; RCV001382253
• dbSNP Id: rs587776403
• ExAC: X:107929360 G / A
• gnomAD v2: X-107929360-G-A
• gnomAD v3: X-108686130-G-A
• gnomAD v4: X-108686130-G-A
• MyVariant Identifiers: chrX:g.107929360G>A (hg19) ; chrX:g.108686130G>A (hg38)
• PubMed: PMID:15780079

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686130G>A , CM000685.2:g.108686130G>A	GRCh38
NC_000023.10:g.107929360G>A , CM000685.1:g.107929360G>A	GRCh37
NC_000023.9:g.107816016G>A	NCBI36
NG_011977.1:g.251207G>A
NG_011977.2:g.251207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4315+1G>A MANE Select	ENSP00000331902.7:n.4315+1G>A
ENST00000361603.7:c.4297+1G>A	ENSP00000354505.2:n.4297+1G>A
ENST00000510690.2:n.809+1G>A
ENST00000328300.10:c.4315+1G>A	ENSP00000331902.6:n.4315+1G>A
ENST00000361603.6:c.4297+1G>A	ENSP00000354505.2:n.4297+1G>A
ENST00000489230.1:n.718+1G>A
ENST00000515658.1:c.111+1G>A
NM_000495.4:c.4297+1G>A	NP_000486.1:n.4297+1G>A
NM_033380.2:c.4315+1G>A	NP_203699.1:n.4315+1G>A
XM_005262070.2:c.4306+1G>A	XP_005262127.1:n.4306+1G>A
XM_006724616.2:c.4315+1G>A	XP_006724679.1:n.4315+1G>A
XM_011530849.1:c.3991+1G>A	XP_011529151.1:n.3991+1G>A
XM_011530851.1:c.1888+1G>A	XP_011529153.1:n.1888+1G>A
XM_011530849.2:c.4330+1G>A	XP_011529151.2:n.4330+1G>A
XM_017029259.2:c.4321+1G>A	XP_016884748.1:n.4321+1G>A
XM_017029260.1:c.4312+1G>A	XP_016884749.1:n.4312+1G>A
XM_017029263.2:c.2650+1G>A	XP_016884752.1:n.2650+1G>A
NM_000495.5:c.4297+1G>A	NP_000486.1:n.4297+1G>A
NM_033380.3:c.4315+1G>A MANE Select	NP_203699.1:n.4315+1G>A