Canonical Allele Identifier: CA414132865

Gene: COL4A5

Linked Data

• dbSNP Id: rs1486730002
• gnomAD v2: X-107938603-C-A
• gnomAD v3: X-108695373-C-A
• gnomAD v4: X-108695373-C-A
• MyVariant Identifiers: chrX:g.107938603C>A (hg19) ; chrX:g.108695373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695373C>A , CM000685.2:g.108695373C>A	GRCh38
NC_000023.10:g.107938603C>A , CM000685.1:g.107938603C>A	GRCh37
NC_000023.9:g.107825259C>A	NCBI36
NG_011977.1:g.260450C>A
NG_011977.2:g.260450C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4928C>A MANE Select	ENSP00000331902.7:p.Thr1643Asn
ENST00000361603.7:c.4910C>A	ENSP00000354505.2:p.Thr1637Asn
ENST00000510690.2:n.1422C>A
ENST00000644079.1:n.1759C>A
ENST00000328300.10:c.4928C>A	ENSP00000331902.6:p.Thr1643Asn
ENST00000361603.6:c.4910C>A	ENSP00000354505.2:p.Thr1637Asn
ENST00000504541.1:c.219+452C>A	ENSP00000424845.1:n.219+452C>A
ENST00000515658.1:c.325-924C>A
NM_000495.4:c.4910C>A	NP_000486.1:p.Thr1637Asn
NM_033380.2:c.4928C>A	NP_203699.1:p.Thr1643Asn
XM_005262070.2:c.4919C>A	XP_005262127.1:p.Thr1640Asn
XM_006724616.2:c.4928C>A	XP_006724679.1:p.Thr1643Asn
XM_011530849.1:c.4604C>A	XP_011529151.1:p.Thr1535Asn
XM_011530851.1:c.2501C>A	XP_011529153.1:p.Thr834Asn
XM_011530849.2:c.4943C>A	XP_011529151.2:p.Thr1648Asn
XM_017029259.2:c.4934C>A	XP_016884748.1:p.Thr1645Asn
XM_017029260.1:c.4925C>A	XP_016884749.1:p.Thr1642Asn
XM_017029263.2:c.3263C>A	XP_016884752.1:p.Thr1088Asn
NM_000495.5:c.4910C>A	NP_000486.1:p.Thr1637Asn
NM_033380.3:c.4928C>A MANE Select	NP_203699.1:p.Thr1643Asn