Canonical Allele Identifier: CA414132513

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 988255
• ClinVar RCV Id: RCV001328291
• dbSNP Id: rs281874747
• MyVariant Identifiers: chrX:g.107938099C>A (hg19) ; chrX:g.108694869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694869C>A , CM000685.2:g.108694869C>A	GRCh38
NC_000023.10:g.107938099C>A , CM000685.1:g.107938099C>A	GRCh37
NC_000023.9:g.107824755C>A	NCBI36
NG_011977.1:g.259946C>A
NG_011977.2:g.259946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4769C>A MANE Select	ENSP00000331902.7:p.Pro1590His
ENST00000361603.7:c.4751C>A	ENSP00000354505.2:p.Pro1584His
ENST00000510690.2:n.1263C>A
ENST00000644079.1:n.1255C>A
ENST00000328300.10:c.4769C>A	ENSP00000331902.6:p.Pro1590His
ENST00000361603.6:c.4751C>A	ENSP00000354505.2:p.Pro1584His
ENST00000504541.1:c.167C>A	ENSP00000424845.1:p.Pro56His
ENST00000515658.1:c.325-1428C>A
NM_000495.4:c.4751C>A	NP_000486.1:p.Pro1584His
NM_033380.2:c.4769C>A	NP_203699.1:p.Pro1590His
XM_005262070.2:c.4760C>A	XP_005262127.1:p.Pro1587His
XM_006724616.2:c.4769C>A	XP_006724679.1:p.Pro1590His
XM_011530849.1:c.4445C>A	XP_011529151.1:p.Pro1482His
XM_011530851.1:c.2342C>A	XP_011529153.1:p.Pro781His
XM_011530849.2:c.4784C>A	XP_011529151.2:p.Pro1595His
XM_017029259.2:c.4775C>A	XP_016884748.1:p.Pro1592His
XM_017029260.1:c.4766C>A	XP_016884749.1:p.Pro1589His
XM_017029263.2:c.3104C>A	XP_016884752.1:p.Pro1035His
NM_000495.5:c.4751C>A	NP_000486.1:p.Pro1584His
NM_033380.3:c.4769C>A MANE Select	NP_203699.1:p.Pro1590His