Canonical Allele Identifier: CA517926384

Gene: COL4A5

Linked Data

• gnomAD v4: X-108696360-G-A
• MyVariant Identifiers: chrX:g.107939590G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696360G>A , CM000685.2:g.108696360G>A	GRCh38
NC_000023.10:g.107939590G>A , CM000685.1:g.107939590G>A	GRCh37
NC_000023.9:g.107826246G>A	NCBI36
NG_011977.1:g.261437G>A
NG_011977.2:g.261437G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.5058G>A MANE Select	ENSP00000331902.7:p.Val1686=
ENST00000361603.7:c.5040G>A	ENSP00000354505.2:p.Val1680=
ENST00000510690.2:n.1552G>A
ENST00000644079.1:n.2746G>A
ENST00000328300.10:c.5058G>A	ENSP00000331902.6:p.Val1686=
ENST00000361603.6:c.5040G>A	ENSP00000354505.2:p.Val1680=
ENST00000504541.1:c.283G>A	ENSP00000424845.1:n.283G>A
ENST00000515658.1:c.388G>A
NM_000495.4:c.5040G>A	NP_000486.1:p.Val1680=
NM_033380.2:c.5058G>A	NP_203699.1:p.Val1686=
XM_005262070.2:c.5049G>A	XP_005262127.1:p.Val1683=
XM_006724616.2:c.5058G>A	XP_006724679.1:p.Val1686=
XM_011530849.1:c.4734G>A	XP_011529151.1:p.Val1578=
XM_011530851.1:c.2631G>A	XP_011529153.1:p.Val877=
XM_011530849.2:c.5073G>A	XP_011529151.2:p.Val1691=
XM_017029259.2:c.5064G>A	XP_016884748.1:p.Val1688=
XM_017029260.1:c.5055G>A	XP_016884749.1:p.Val1685=
XM_017029263.2:c.3393G>A	XP_016884752.1:p.Val1131=
NM_000495.5:c.5040G>A	NP_000486.1:p.Val1680=
NM_033380.3:c.5058G>A MANE Select	NP_203699.1:p.Val1686=