Canonical Allele Identifier: CA643637397

Gene: COL4A5

Linked Data

• dbSNP Id: rs1292485778
• gnomAD v2: X-107939769-G-A
• gnomAD v3: X-108696539-G-A
• gnomAD v4: X-108696539-G-A
• MyVariant Identifiers: chrX:g.107939769G>A (hg19) ; chrX:g.108696539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696539G>A , CM000685.2:g.108696539G>A	GRCh38
NC_000023.10:g.107939769G>A , CM000685.1:g.107939769G>A	GRCh37
NC_000023.9:g.107826425G>A	NCBI36
NG_011977.1:g.261616G>A
NG_011977.2:g.261616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*161G>A MANE Select	ENSP00000331902.7:n.*161G>A
ENST00000361603.7:c.*161G>A	ENSP00000354505.2:n.*161G>A
ENST00000644079.1:n.2925G>A
ENST00000328300.10:c.*161G>A	ENSP00000331902.6:n.*161G>A
ENST00000361603.6:c.*161G>A	ENSP00000354505.2:n.*161G>A
ENST00000504541.1:c.462G>A	ENSP00000424845.1:n.462G>A
ENST00000515658.1:c.567G>A
NM_000495.4:c.*161G>A	NP_000486.1:n.*161G>A
NM_033380.2:c.*161G>A	NP_203699.1:n.*161G>A
XM_005262070.2:c.*161G>A	XP_005262127.1:n.*161G>A
XM_006724616.2:c.*161G>A	XP_006724679.1:n.*161G>A
XM_011530849.1:c.*161G>A	XP_011529151.1:n.*161G>A
XM_011530851.1:c.*161G>A	XP_011529153.1:n.*161G>A
XM_011530849.2:c.*161G>A	XP_011529151.2:n.*161G>A
XM_017029259.2:c.*161G>A	XP_016884748.1:n.*161G>A
XM_017029260.1:c.*161G>A	XP_016884749.1:n.*161G>A
XM_017029263.2:c.*161G>A	XP_016884752.1:n.*161G>A
NM_000495.5:c.*161G>A	NP_000486.1:n.*161G>A
NM_033380.3:c.*161G>A MANE Select	NP_203699.1:n.*161G>A