Canonical Allele Identifier: CA413847690

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 635495
• ClinVar RCV Id: RCV000786956
• dbSNP Id: rs1603310370
• MyVariant Identifiers: chrX:g.107909746C>T (hg19) ; chrX:g.108666516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666516C>T , CM000685.2:g.108666516C>T	GRCh38
NC_000023.10:g.107909746C>T , CM000685.1:g.107909746C>T	GRCh37
NC_000023.9:g.107796402C>T	NCBI36
NG_011977.1:g.231593C>T
NG_011977.2:g.231593C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3475C>T MANE Select	ENSP00000331902.7:p.Gln1159Ter
ENST00000361603.7:c.3475C>T	ENSP00000354505.2:p.Gln1159Ter
ENST00000328300.10:c.3475C>T	ENSP00000331902.6:p.Gln1159Ter
ENST00000361603.6:c.3475C>T	ENSP00000354505.2:p.Gln1159Ter
NM_000495.4:c.3475C>T	NP_000486.1:p.Gln1159Ter
NM_033380.2:c.3475C>T	NP_203699.1:p.Gln1159Ter
XM_005262070.2:c.3475C>T	XP_005262127.1:p.Gln1159Ter
XM_006724616.2:c.3475C>T	XP_006724679.1:p.Gln1159Ter
XM_011530849.1:c.3151C>T	XP_011529151.1:p.Gln1051Ter
XM_011530850.1:c.3475C>T	XP_011529152.1:p.Gln1159Ter
XM_011530851.1:c.1048C>T	XP_011529153.1:p.Gln350Ter
XM_011530849.2:c.3490C>T	XP_011529151.2:p.Gln1164Ter
XM_017029259.2:c.3490C>T	XP_016884748.1:p.Gln1164Ter
XM_017029260.1:c.3490C>T	XP_016884749.1:p.Gln1164Ter
XM_017029261.1:c.3490C>T	XP_016884750.1:p.Gln1164Ter
XM_017029262.2:c.3490C>T	XP_016884751.1:p.Gln1164Ter
XM_017029263.2:c.1810C>T	XP_016884752.1:p.Gln604Ter
NM_000495.5:c.3475C>T	NP_000486.1:p.Gln1159Ter
NM_033380.3:c.3475C>T MANE Select	NP_203699.1:p.Gln1159Ter