Canonical Allele Identifier: CA413850394

Gene: COL4A5

Linked Data

• gnomAD v4: X-108677566-A-T
• MyVariant Identifiers: chrX:g.107920796A>T (hg19) ; chrX:g.108677566A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677566A>T , CM000685.2:g.108677566A>T	GRCh38
NC_000023.10:g.107920796A>T , CM000685.1:g.107920796A>T	GRCh37
NC_000023.9:g.107807452A>T	NCBI36
NG_011977.1:g.242643A>T
NG_011977.2:g.242643A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3875A>T MANE Select	ENSP00000331902.7:p.Asn1292Ile
ENST00000361603.7:c.3857A>T	ENSP00000354505.2:p.Asn1286Ile
ENST00000510690.2:n.369A>T
ENST00000328300.10:c.3875A>T	ENSP00000331902.6:p.Asn1292Ile
ENST00000361603.6:c.3857A>T	ENSP00000354505.2:p.Asn1286Ile
ENST00000489230.1:n.278A>T
ENST00000510690.1:n.369A>T
NM_000495.4:c.3857A>T	NP_000486.1:p.Asn1286Ile
NM_033380.2:c.3875A>T	NP_203699.1:p.Asn1292Ile
XM_005262070.2:c.3866A>T	XP_005262127.1:p.Asn1289Ile
XM_006724616.2:c.3875A>T	XP_006724679.1:p.Asn1292Ile
XM_011530849.1:c.3551A>T	XP_011529151.1:p.Asn1184Ile
XM_011530851.1:c.1448A>T	XP_011529153.1:p.Asn483Ile
XM_011530849.2:c.3890A>T	XP_011529151.2:p.Asn1297Ile
XM_017029259.2:c.3881A>T	XP_016884748.1:p.Asn1294Ile
XM_017029260.1:c.3872A>T	XP_016884749.1:p.Asn1291Ile
XM_017029261.1:c.3890A>T	XP_016884750.1:p.Asn1297Ile
XM_017029263.2:c.2210A>T	XP_016884752.1:p.Asn737Ile
NM_000495.5:c.3857A>T	NP_000486.1:p.Asn1286Ile
NM_033380.3:c.3875A>T MANE Select	NP_203699.1:p.Asn1292Ile