Canonical Allele Identifier: CA414132749

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2135520
• ClinVar RCV Id: RCV003059607
• MyVariant Identifiers: chrX:g.107938552G>A (hg19) ; chrX:g.108695322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695322G>A , CM000685.2:g.108695322G>A	GRCh38
NC_000023.10:g.107938552G>A , CM000685.1:g.107938552G>A	GRCh37
NC_000023.9:g.107825208G>A	NCBI36
NG_011977.1:g.260399G>A
NG_011977.2:g.260399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4877G>A MANE Select	ENSP00000331902.7:p.Cys1626Tyr
ENST00000361603.7:c.4859G>A	ENSP00000354505.2:p.Cys1620Tyr
ENST00000510690.2:n.1371G>A
ENST00000644079.1:n.1708G>A
ENST00000328300.10:c.4877G>A	ENSP00000331902.6:p.Cys1626Tyr
ENST00000361603.6:c.4859G>A	ENSP00000354505.2:p.Cys1620Tyr
ENST00000504541.1:c.219+401G>A	ENSP00000424845.1:n.219+401G>A
ENST00000515658.1:c.325-975G>A
NM_000495.4:c.4859G>A	NP_000486.1:p.Cys1620Tyr
NM_033380.2:c.4877G>A	NP_203699.1:p.Cys1626Tyr
XM_005262070.2:c.4868G>A	XP_005262127.1:p.Cys1623Tyr
XM_006724616.2:c.4877G>A	XP_006724679.1:p.Cys1626Tyr
XM_011530849.1:c.4553G>A	XP_011529151.1:p.Cys1518Tyr
XM_011530851.1:c.2450G>A	XP_011529153.1:p.Cys817Tyr
XM_011530849.2:c.4892G>A	XP_011529151.2:p.Cys1631Tyr
XM_017029259.2:c.4883G>A	XP_016884748.1:p.Cys1628Tyr
XM_017029260.1:c.4874G>A	XP_016884749.1:p.Cys1625Tyr
XM_017029263.2:c.3212G>A	XP_016884752.1:p.Cys1071Tyr
NM_000495.5:c.4859G>A	NP_000486.1:p.Cys1620Tyr
NM_033380.3:c.4877G>A MANE Select	NP_203699.1:p.Cys1626Tyr