Canonical Allele Identifier: CA10489007

Gene: COL4A5

Linked Data

• dbSNP Id: rs767268861
• ExAC: X:107867531 C / A
• gnomAD v2: X-107867531-C-A
• gnomAD v4: X-108624301-C-A
• MyVariant Identifiers: chrX:g.107867531C>A (hg19) ; chrX:g.108624301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624301C>A , CM000685.2:g.108624301C>A	GRCh38
NC_000023.10:g.107867531C>A , CM000685.1:g.107867531C>A	GRCh37
NC_000023.9:g.107754187C>A	NCBI36
NG_011977.1:g.189378C>A
NG_011977.2:g.189378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2983C>A MANE Select	ENSP00000331902.7:p.Leu995Met
ENST00000361603.7:c.2983C>A	ENSP00000354505.2:p.Leu995Met
ENST00000328300.10:c.2983C>A	ENSP00000331902.6:p.Leu995Met
ENST00000361603.6:c.2983C>A	ENSP00000354505.2:p.Leu995Met
ENST00000483338.1:n.2439C>A
ENST00000505728.1:c.216C>A
NM_000495.4:c.2983C>A	NP_000486.1:p.Leu995Met
NM_033380.2:c.2983C>A	NP_203699.1:p.Leu995Met
XM_005262070.2:c.2983C>A	XP_005262127.1:p.Leu995Met
XM_005262072.3:c.2983C>A	XP_005262129.1:p.Leu995Met
XM_006724616.2:c.2983C>A	XP_006724679.1:p.Leu995Met
XM_011530849.1:c.2659C>A	XP_011529151.1:p.Leu887Met
XM_011530850.1:c.2983C>A	XP_011529152.1:p.Leu995Met
XM_011530851.1:c.556C>A	XP_011529153.1:p.Leu186Met
XM_011530849.2:c.2998C>A	XP_011529151.2:p.Leu1000Met
XM_017029259.2:c.2998C>A	XP_016884748.1:p.Leu1000Met
XM_017029260.1:c.2998C>A	XP_016884749.1:p.Leu1000Met
XM_017029261.1:c.2998C>A	XP_016884750.1:p.Leu1000Met
XM_017029262.2:c.2998C>A	XP_016884751.1:p.Leu1000Met
XM_017029263.2:c.1318C>A	XP_016884752.1:p.Leu440Met
NM_000495.5:c.2983C>A	NP_000486.1:p.Leu995Met
NM_033380.3:c.2983C>A MANE Select	NP_203699.1:p.Leu995Met