Canonical Allele Identifier: CA517925735

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1129956
• ClinVar RCV Id: RCV001463293
• dbSNP Id: rs761701751
• gnomAD v4: X-108694858-G-T
• MyVariant Identifiers: chrX:g.107938088G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694858G>T , CM000685.2:g.108694858G>T	GRCh38
NC_000023.10:g.107938088G>T , CM000685.1:g.107938088G>T	GRCh37
NC_000023.9:g.107824744G>T	NCBI36
NG_011977.1:g.259935G>T
NG_011977.2:g.259935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4758G>T MANE Select	ENSP00000331902.7:p.Thr1586=
ENST00000361603.7:c.4740G>T	ENSP00000354505.2:p.Thr1580=
ENST00000510690.2:n.1252G>T
ENST00000644079.1:n.1244G>T
ENST00000328300.10:c.4758G>T	ENSP00000331902.6:p.Thr1586=
ENST00000361603.6:c.4740G>T	ENSP00000354505.2:p.Thr1580=
ENST00000504541.1:c.156G>T	ENSP00000424845.1:p.Thr52=
ENST00000515658.1:c.325-1439G>T
NM_000495.4:c.4740G>T	NP_000486.1:p.Thr1580=
NM_033380.2:c.4758G>T	NP_203699.1:p.Thr1586=
XM_005262070.2:c.4749G>T	XP_005262127.1:p.Thr1583=
XM_006724616.2:c.4758G>T	XP_006724679.1:p.Thr1586=
XM_011530849.1:c.4434G>T	XP_011529151.1:p.Thr1478=
XM_011530851.1:c.2331G>T	XP_011529153.1:p.Thr777=
XM_011530849.2:c.4773G>T	XP_011529151.2:p.Thr1591=
XM_017029259.2:c.4764G>T	XP_016884748.1:p.Thr1588=
XM_017029260.1:c.4755G>T	XP_016884749.1:p.Thr1585=
XM_017029263.2:c.3093G>T	XP_016884752.1:p.Thr1031=
NM_000495.5:c.4740G>T	NP_000486.1:p.Thr1580=
NM_033380.3:c.4758G>T MANE Select	NP_203699.1:p.Thr1586=