Canonical Allele Identifier: CA413847909

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107909818G>C (hg19) ; chrX:g.108666588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666588G>C , CM000685.2:g.108666588G>C	GRCh38
NC_000023.10:g.107909818G>C , CM000685.1:g.107909818G>C	GRCh37
NC_000023.9:g.107796474G>C	NCBI36
NG_011977.1:g.231665G>C
NG_011977.2:g.231665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3547G>C MANE Select	ENSP00000331902.7:p.Glu1183Gln
ENST00000361603.7:c.3547G>C	ENSP00000354505.2:p.Glu1183Gln
ENST00000328300.10:c.3547G>C	ENSP00000331902.6:p.Glu1183Gln
ENST00000361603.6:c.3547G>C	ENSP00000354505.2:p.Glu1183Gln
NM_000495.4:c.3547G>C	NP_000486.1:p.Glu1183Gln
NM_033380.2:c.3547G>C	NP_203699.1:p.Glu1183Gln
XM_005262070.2:c.3547G>C	XP_005262127.1:p.Glu1183Gln
XM_006724616.2:c.3547G>C	XP_006724679.1:p.Glu1183Gln
XM_011530849.1:c.3223G>C	XP_011529151.1:p.Glu1075Gln
XM_011530850.1:c.3547G>C	XP_011529152.1:p.Glu1183Gln
XM_011530851.1:c.1120G>C	XP_011529153.1:p.Glu374Gln
XM_011530849.2:c.3562G>C	XP_011529151.2:p.Glu1188Gln
XM_017029259.2:c.3562G>C	XP_016884748.1:p.Glu1188Gln
XM_017029260.1:c.3562G>C	XP_016884749.1:p.Glu1188Gln
XM_017029261.1:c.3562G>C	XP_016884750.1:p.Glu1188Gln
XM_017029262.2:c.3562G>C	XP_016884751.1:p.Glu1188Gln
XM_017029263.2:c.1882G>C	XP_016884752.1:p.Glu628Gln
NM_000495.5:c.3547G>C	NP_000486.1:p.Glu1183Gln
NM_033380.3:c.3547G>C MANE Select	NP_203699.1:p.Glu1183Gln