Canonical Allele Identifier: CA413853818

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 984066
• ClinVar RCV Id: RCV001264071
• dbSNP Id: rs143778018
• gnomAD v4: X-108686123-C-T
• MyVariant Identifiers: chrX:g.107929353C>T (hg19) ; chrX:g.108686123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686123C>T , CM000685.2:g.108686123C>T	GRCh38
NC_000023.10:g.107929353C>T , CM000685.1:g.107929353C>T	GRCh37
NC_000023.9:g.107816009C>T	NCBI36
NG_011977.1:g.251200C>T
NG_011977.2:g.251200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4309C>T MANE Select	ENSP00000331902.7:p.Gln1437Ter
ENST00000361603.7:c.4291C>T	ENSP00000354505.2:p.Gln1431Ter
ENST00000510690.2:n.803C>T
ENST00000328300.10:c.4309C>T	ENSP00000331902.6:p.Gln1437Ter
ENST00000361603.6:c.4291C>T	ENSP00000354505.2:p.Gln1431Ter
ENST00000489230.1:n.712C>T
ENST00000515658.1:c.105C>T
NM_000495.4:c.4291C>T	NP_000486.1:p.Gln1431Ter
NM_033380.2:c.4309C>T	NP_203699.1:p.Gln1437Ter
XM_005262070.2:c.4300C>T	XP_005262127.1:p.Gln1434Ter
XM_006724616.2:c.4309C>T	XP_006724679.1:p.Gln1437Ter
XM_011530849.1:c.3985C>T	XP_011529151.1:p.Gln1329Ter
XM_011530851.1:c.1882C>T	XP_011529153.1:p.Gln628Ter
XM_011530849.2:c.4324C>T	XP_011529151.2:p.Gln1442Ter
XM_017029259.2:c.4315C>T	XP_016884748.1:p.Gln1439Ter
XM_017029260.1:c.4306C>T	XP_016884749.1:p.Gln1436Ter
XM_017029263.2:c.2644C>T	XP_016884752.1:p.Gln882Ter
NM_000495.5:c.4291C>T	NP_000486.1:p.Gln1431Ter
NM_033380.3:c.4309C>T MANE Select	NP_203699.1:p.Gln1437Ter