Canonical Allele Identifier: CA413850439

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920805A>C (hg19) ; chrX:g.108677575A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677575A>C , CM000685.2:g.108677575A>C	GRCh38
NC_000023.10:g.107920805A>C , CM000685.1:g.107920805A>C	GRCh37
NC_000023.9:g.107807461A>C	NCBI36
NG_011977.1:g.242652A>C
NG_011977.2:g.242652A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3884A>C MANE Select	ENSP00000331902.7:p.Gln1295Pro
ENST00000361603.7:c.3866A>C	ENSP00000354505.2:p.Gln1289Pro
ENST00000510690.2:n.378A>C
ENST00000328300.10:c.3884A>C	ENSP00000331902.6:p.Gln1295Pro
ENST00000361603.6:c.3866A>C	ENSP00000354505.2:p.Gln1289Pro
ENST00000489230.1:n.287A>C
ENST00000510690.1:n.378A>C
NM_000495.4:c.3866A>C	NP_000486.1:p.Gln1289Pro
NM_033380.2:c.3884A>C	NP_203699.1:p.Gln1295Pro
XM_005262070.2:c.3875A>C	XP_005262127.1:p.Gln1292Pro
XM_006724616.2:c.3884A>C	XP_006724679.1:p.Gln1295Pro
XM_011530849.1:c.3560A>C	XP_011529151.1:p.Gln1187Pro
XM_011530851.1:c.1457A>C	XP_011529153.1:p.Gln486Pro
XM_011530849.2:c.3899A>C	XP_011529151.2:p.Gln1300Pro
XM_017029259.2:c.3890A>C	XP_016884748.1:p.Gln1297Pro
XM_017029260.1:c.3881A>C	XP_016884749.1:p.Gln1294Pro
XM_017029261.1:c.3899A>C	XP_016884750.1:p.Gln1300Pro
XM_017029263.2:c.2219A>C	XP_016884752.1:p.Gln740Pro
NM_000495.5:c.3866A>C	NP_000486.1:p.Gln1289Pro
NM_033380.3:c.3884A>C MANE Select	NP_203699.1:p.Gln1295Pro