Canonical Allele Identifier: CA414132846

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068717086
• gnomAD v3: X-108695364-G-A
• gnomAD v4: X-108695364-G-A
• MyVariant Identifiers: chrX:g.107938594G>A (hg19) ; chrX:g.108695364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695364G>A , CM000685.2:g.108695364G>A	GRCh38
NC_000023.10:g.107938594G>A , CM000685.1:g.107938594G>A	GRCh37
NC_000023.9:g.107825250G>A	NCBI36
NG_011977.1:g.260441G>A
NG_011977.2:g.260441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4919G>A MANE Select	ENSP00000331902.7:p.Gly1640Glu
ENST00000361603.7:c.4901G>A	ENSP00000354505.2:p.Gly1634Glu
ENST00000510690.2:n.1413G>A
ENST00000644079.1:n.1750G>A
ENST00000328300.10:c.4919G>A	ENSP00000331902.6:p.Gly1640Glu
ENST00000361603.6:c.4901G>A	ENSP00000354505.2:p.Gly1634Glu
ENST00000504541.1:c.219+443G>A	ENSP00000424845.1:n.219+443G>A
ENST00000515658.1:c.325-933G>A
NM_000495.4:c.4901G>A	NP_000486.1:p.Gly1634Glu
NM_033380.2:c.4919G>A	NP_203699.1:p.Gly1640Glu
XM_005262070.2:c.4910G>A	XP_005262127.1:p.Gly1637Glu
XM_006724616.2:c.4919G>A	XP_006724679.1:p.Gly1640Glu
XM_011530849.1:c.4595G>A	XP_011529151.1:p.Gly1532Glu
XM_011530851.1:c.2492G>A	XP_011529153.1:p.Gly831Glu
XM_011530849.2:c.4934G>A	XP_011529151.2:p.Gly1645Glu
XM_017029259.2:c.4925G>A	XP_016884748.1:p.Gly1642Glu
XM_017029260.1:c.4916G>A	XP_016884749.1:p.Gly1639Glu
XM_017029263.2:c.3254G>A	XP_016884752.1:p.Gly1085Glu
NM_000495.5:c.4901G>A	NP_000486.1:p.Gly1634Glu
NM_033380.3:c.4919G>A MANE Select	NP_203699.1:p.Gly1640Glu