Canonical Allele Identifier: CA414132553

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1339094
• ClinVar RCV Id: RCV001823548
• dbSNP Id: rs2148001666
• MyVariant Identifiers: chrX:g.107938118G>A (hg19) ; chrX:g.108694888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694888G>A , CM000685.2:g.108694888G>A	GRCh38
NC_000023.10:g.107938118G>A , CM000685.1:g.107938118G>A	GRCh37
NC_000023.9:g.107824774G>A	NCBI36
NG_011977.1:g.259965G>A
NG_011977.2:g.259965G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4788G>A MANE Select	ENSP00000331902.7:p.Trp1596Ter
ENST00000361603.7:c.4770G>A	ENSP00000354505.2:p.Trp1590Ter
ENST00000510690.2:n.1282G>A
ENST00000644079.1:n.1274G>A
ENST00000328300.10:c.4788G>A	ENSP00000331902.6:p.Trp1596Ter
ENST00000361603.6:c.4770G>A	ENSP00000354505.2:p.Trp1590Ter
ENST00000504541.1:c.186G>A	ENSP00000424845.1:p.Trp62Ter
ENST00000515658.1:c.325-1409G>A
NM_000495.4:c.4770G>A	NP_000486.1:p.Trp1590Ter
NM_033380.2:c.4788G>A	NP_203699.1:p.Trp1596Ter
XM_005262070.2:c.4779G>A	XP_005262127.1:p.Trp1593Ter
XM_006724616.2:c.4788G>A	XP_006724679.1:p.Trp1596Ter
XM_011530849.1:c.4464G>A	XP_011529151.1:p.Trp1488Ter
XM_011530851.1:c.2361G>A	XP_011529153.1:p.Trp787Ter
XM_011530849.2:c.4803G>A	XP_011529151.2:p.Trp1601Ter
XM_017029259.2:c.4794G>A	XP_016884748.1:p.Trp1598Ter
XM_017029260.1:c.4785G>A	XP_016884749.1:p.Trp1595Ter
XM_017029263.2:c.3123G>A	XP_016884752.1:p.Trp1041Ter
NM_000495.5:c.4770G>A	NP_000486.1:p.Trp1590Ter
NM_033380.3:c.4788G>A MANE Select	NP_203699.1:p.Trp1596Ter