Canonical Allele Identifier: CA517923847

Gene: COL4A5

Linked Data

• gnomAD v4: X-108681839-G-A
• MyVariant Identifiers: chrX:g.107925069G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681839G>A , CM000685.2:g.108681839G>A	GRCh38
NC_000023.10:g.107925069G>A , CM000685.1:g.107925069G>A	GRCh37
NC_000023.9:g.107811725G>A	NCBI36
NG_011977.1:g.246916G>A
NG_011977.2:g.246916G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4167G>A MANE Select	ENSP00000331902.7:p.Gln1389=
ENST00000361603.7:c.4149G>A	ENSP00000354505.2:p.Gln1383=
ENST00000510690.2:n.661G>A
ENST00000328300.10:c.4167G>A	ENSP00000331902.6:p.Gln1389=
ENST00000361603.6:c.4149G>A	ENSP00000354505.2:p.Gln1383=
ENST00000489230.1:n.570G>A
NM_000495.4:c.4149G>A	NP_000486.1:p.Gln1383=
NM_033380.2:c.4167G>A	NP_203699.1:p.Gln1389=
XM_005262070.2:c.4158G>A	XP_005262127.1:p.Gln1386=
XM_006724616.2:c.4167G>A	XP_006724679.1:p.Gln1389=
XM_011530849.1:c.3843G>A	XP_011529151.1:p.Gln1281=
XM_011530851.1:c.1740G>A	XP_011529153.1:p.Gln580=
XM_011530849.2:c.4182G>A	XP_011529151.2:p.Gln1394=
XM_017029259.2:c.4173G>A	XP_016884748.1:p.Gln1391=
XM_017029260.1:c.4164G>A	XP_016884749.1:p.Gln1388=
XM_017029263.2:c.2502G>A	XP_016884752.1:p.Gln834=
NM_000495.5:c.4149G>A	NP_000486.1:p.Gln1383=
NM_033380.3:c.4167G>A MANE Select	NP_203699.1:p.Gln1389=