Canonical Allele Identifier: CA413853957

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068568775
• gnomAD v3: X-108687496-G-A
• gnomAD v4: X-108687496-G-A
• MyVariant Identifiers: chrX:g.107930726G>A (hg19) ; chrX:g.108687496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687496G>A , CM000685.2:g.108687496G>A	GRCh38
NC_000023.10:g.107930726G>A , CM000685.1:g.107930726G>A	GRCh37
NC_000023.9:g.107817382G>A	NCBI36
NG_011977.1:g.252573G>A
NG_011977.2:g.252573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4330G>A MANE Select	ENSP00000331902.7:p.Asp1444Asn
ENST00000361603.7:c.4312G>A	ENSP00000354505.2:p.Asp1438Asn
ENST00000510690.2:n.824G>A
ENST00000328300.10:c.4330G>A	ENSP00000331902.6:p.Asp1444Asn
ENST00000361603.6:c.4312G>A	ENSP00000354505.2:p.Asp1438Asn
ENST00000489230.1:n.733G>A
ENST00000515658.1:c.126G>A
NM_000495.4:c.4312G>A	NP_000486.1:p.Asp1438Asn
NM_033380.2:c.4330G>A	NP_203699.1:p.Asp1444Asn
XM_005262070.2:c.4321G>A	XP_005262127.1:p.Asp1441Asn
XM_006724616.2:c.4330G>A	XP_006724679.1:p.Asp1444Asn
XM_011530849.1:c.4006G>A	XP_011529151.1:p.Asp1336Asn
XM_011530851.1:c.1903G>A	XP_011529153.1:p.Asp635Asn
XM_011530849.2:c.4345G>A	XP_011529151.2:p.Asp1449Asn
XM_017029259.2:c.4336G>A	XP_016884748.1:p.Asp1446Asn
XM_017029260.1:c.4327G>A	XP_016884749.1:p.Asp1443Asn
XM_017029263.2:c.2665G>A	XP_016884752.1:p.Asp889Asn
NM_000495.5:c.4312G>A	NP_000486.1:p.Asp1438Asn
NM_033380.3:c.4330G>A MANE Select	NP_203699.1:p.Asp1444Asn