Canonical Allele Identifier: CA334062953

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1609735
• ClinVar RCV Id: RCV002152643
• dbSNP Id: rs1036002833
• gnomAD v3: X-108694840-C-T
• gnomAD v4: X-108694840-C-T
• COSMIC: COSM3556720 ; COSM3556721
• MyVariant Identifiers: chrX:g.107938070C>T (hg19) ; chrX:g.108694840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694840C>T , CM000685.2:g.108694840C>T	GRCh38
NC_000023.10:g.107938070C>T , CM000685.1:g.107938070C>T	GRCh37
NC_000023.9:g.107824726C>T	NCBI36
NG_011977.1:g.259917C>T
NG_011977.2:g.259917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4740C>T MANE Select	ENSP00000331902.7:p.Ile1580=
ENST00000361603.7:c.4722C>T	ENSP00000354505.2:p.Ile1574=
ENST00000510690.2:n.1234C>T
ENST00000644079.1:n.1226C>T
ENST00000328300.10:c.4740C>T	ENSP00000331902.6:p.Ile1580=
ENST00000361603.6:c.4722C>T	ENSP00000354505.2:p.Ile1574=
ENST00000504541.1:c.138C>T	ENSP00000424845.1:p.Ile46=
ENST00000515658.1:c.325-1457C>T
NM_000495.4:c.4722C>T	NP_000486.1:p.Ile1574=
NM_033380.2:c.4740C>T	NP_203699.1:p.Ile1580=
XM_005262070.2:c.4731C>T	XP_005262127.1:p.Ile1577=
XM_006724616.2:c.4740C>T	XP_006724679.1:p.Ile1580=
XM_011530849.1:c.4416C>T	XP_011529151.1:p.Ile1472=
XM_011530851.1:c.2313C>T	XP_011529153.1:p.Ile771=
XM_011530849.2:c.4755C>T	XP_011529151.2:p.Ile1585=
XM_017029259.2:c.4746C>T	XP_016884748.1:p.Ile1582=
XM_017029260.1:c.4737C>T	XP_016884749.1:p.Ile1579=
XM_017029263.2:c.3075C>T	XP_016884752.1:p.Ile1025=
NM_000495.5:c.4722C>T	NP_000486.1:p.Ile1574=
NM_033380.3:c.4740C>T MANE Select	NP_203699.1:p.Ile1580=