Canonical Allele Identifier: CA414132875

Gene: COL4A5

Linked Data

• dbSNP Id: rs1181315377
• gnomAD v2: X-107938608-A-G
• gnomAD v4: X-108695378-A-G
• MyVariant Identifiers: chrX:g.107938608A>G (hg19) ; chrX:g.108695378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695378A>G , CM000685.2:g.108695378A>G	GRCh38
NC_000023.10:g.107938608A>G , CM000685.1:g.107938608A>G	GRCh37
NC_000023.9:g.107825264A>G	NCBI36
NG_011977.1:g.260455A>G
NG_011977.2:g.260455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4933A>G MANE Select	ENSP00000331902.7:p.Asn1645Asp
ENST00000361603.7:c.4915A>G	ENSP00000354505.2:p.Asn1639Asp
ENST00000510690.2:n.1427A>G
ENST00000644079.1:n.1764A>G
ENST00000328300.10:c.4933A>G	ENSP00000331902.6:p.Asn1645Asp
ENST00000361603.6:c.4915A>G	ENSP00000354505.2:p.Asn1639Asp
ENST00000504541.1:c.219+457A>G	ENSP00000424845.1:n.219+457A>G
ENST00000515658.1:c.325-919A>G
NM_000495.4:c.4915A>G	NP_000486.1:p.Asn1639Asp
NM_033380.2:c.4933A>G	NP_203699.1:p.Asn1645Asp
XM_005262070.2:c.4924A>G	XP_005262127.1:p.Asn1642Asp
XM_006724616.2:c.4933A>G	XP_006724679.1:p.Asn1645Asp
XM_011530849.1:c.4609A>G	XP_011529151.1:p.Asn1537Asp
XM_011530851.1:c.2506A>G	XP_011529153.1:p.Asn836Asp
XM_011530849.2:c.4948A>G	XP_011529151.2:p.Asn1650Asp
XM_017029259.2:c.4939A>G	XP_016884748.1:p.Asn1647Asp
XM_017029260.1:c.4930A>G	XP_016884749.1:p.Asn1644Asp
XM_017029263.2:c.3268A>G	XP_016884752.1:p.Asn1090Asp
NM_000495.5:c.4915A>G	NP_000486.1:p.Asn1639Asp
NM_033380.3:c.4933A>G MANE Select	NP_203699.1:p.Asn1645Asp