Canonical Allele Identifier: CA259123

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24773
• ClinVar RCV Id: RCV001090396
• dbSNP Id: rs104886300
• MyVariant Identifiers: chrX:g.107938151G>A (hg19) ; chrX:g.108694921G>A (hg38)
• PubMed: PMID:10094548 ; PMID:20378821

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694921G>A , CM000685.2:g.108694921G>A	GRCh38
NC_000023.10:g.107938151G>A , CM000685.1:g.107938151G>A	GRCh37
NC_000023.9:g.107824807G>A	NCBI36
NG_011977.1:g.259998G>A
NG_011977.2:g.259998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821G>A MANE Select	ENSP00000331902.7:p.Met1607Ile
ENST00000361603.7:c.4803G>A	ENSP00000354505.2:p.Met1601Ile
ENST00000510690.2:n.1315G>A
ENST00000644079.1:n.1307G>A
ENST00000328300.10:c.4821G>A	ENSP00000331902.6:p.Met1607Ile
ENST00000361603.6:c.4803G>A	ENSP00000354505.2:p.Met1601Ile
ENST00000504541.1:c.219G>A	ENSP00000424845.1:p.Met73Ile
ENST00000515658.1:c.325-1376G>A
NM_000495.4:c.4803G>A	NP_000486.1:p.Met1601Ile
NM_033380.2:c.4821G>A	NP_203699.1:p.Met1607Ile
XM_005262070.2:c.4812G>A	XP_005262127.1:p.Met1604Ile
XM_006724616.2:c.4821G>A	XP_006724679.1:p.Met1607Ile
XM_011530849.1:c.4497G>A	XP_011529151.1:p.Met1499Ile
XM_011530851.1:c.2394G>A	XP_011529153.1:p.Met798Ile
XM_011530849.2:c.4836G>A	XP_011529151.2:p.Met1612Ile
XM_017029259.2:c.4827G>A	XP_016884748.1:p.Met1609Ile
XM_017029260.1:c.4818G>A	XP_016884749.1:p.Met1606Ile
XM_017029263.2:c.3156G>A	XP_016884752.1:p.Met1052Ile
NM_000495.5:c.4803G>A	NP_000486.1:p.Met1601Ile
NM_033380.3:c.4821G>A MANE Select	NP_203699.1:p.Met1607Ile