Canonical Allele Identifier: CA413854609

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 444822
• ClinVar RCV Id: RCV000513184 ; RCV001029967
• dbSNP Id: rs104886282
• gnomAD v4: X-108687641-G-T
• MyVariant Identifiers: chrX:g.107930871G>T (hg19) ; chrX:g.108687641G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687641G>T , CM000685.2:g.108687641G>T	GRCh38
NC_000023.10:g.107930871G>T , CM000685.1:g.107930871G>T	GRCh37
NC_000023.9:g.107817527G>T	NCBI36
NG_011977.1:g.252718G>T
NG_011977.2:g.252718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4475G>T MANE Select	ENSP00000331902.7:p.Gly1492Val
ENST00000361603.7:c.4457G>T	ENSP00000354505.2:p.Gly1486Val
ENST00000510690.2:n.969G>T
ENST00000328300.10:c.4475G>T	ENSP00000331902.6:p.Gly1492Val
ENST00000361603.6:c.4457G>T	ENSP00000354505.2:p.Gly1486Val
ENST00000515658.1:c.271G>T
NM_000495.4:c.4457G>T	NP_000486.1:p.Gly1486Val
NM_033380.2:c.4475G>T	NP_203699.1:p.Gly1492Val
XM_005262070.2:c.4466G>T	XP_005262127.1:p.Gly1489Val
XM_006724616.2:c.4475G>T	XP_006724679.1:p.Gly1492Val
XM_011530849.1:c.4151G>T	XP_011529151.1:p.Gly1384Val
XM_011530851.1:c.2048G>T	XP_011529153.1:p.Gly683Val
XM_011530849.2:c.4490G>T	XP_011529151.2:p.Gly1497Val
XM_017029259.2:c.4481G>T	XP_016884748.1:p.Gly1494Val
XM_017029260.1:c.4472G>T	XP_016884749.1:p.Gly1491Val
XM_017029263.2:c.2810G>T	XP_016884752.1:p.Gly937Val
NM_000495.5:c.4457G>T	NP_000486.1:p.Gly1486Val
NM_033380.3:c.4475G>T MANE Select	NP_203699.1:p.Gly1492Val