Canonical Allele Identifier: CA413851200

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2773229
• ClinVar RCV Id: RCV003577051
• MyVariant Identifiers: chrX:g.107924168G>A (hg19) ; chrX:g.108680938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680938G>A , CM000685.2:g.108680938G>A	GRCh38
NC_000023.10:g.107924168G>A , CM000685.1:g.107924168G>A	GRCh37
NC_000023.9:g.107810824G>A	NCBI36
NG_011977.1:g.246015G>A
NG_011977.2:g.246015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4069G>A MANE Select	ENSP00000331902.7:p.Gly1357Arg
ENST00000361603.7:c.4051G>A	ENSP00000354505.2:p.Gly1351Arg
ENST00000510690.2:n.563G>A
ENST00000328300.10:c.4069G>A	ENSP00000331902.6:p.Gly1357Arg
ENST00000361603.6:c.4051G>A	ENSP00000354505.2:p.Gly1351Arg
ENST00000489230.1:n.472G>A
NM_000495.4:c.4051G>A	NP_000486.1:p.Gly1351Arg
NM_033380.2:c.4069G>A	NP_203699.1:p.Gly1357Arg
XM_005262070.2:c.4060G>A	XP_005262127.1:p.Gly1354Arg
XM_006724616.2:c.4069G>A	XP_006724679.1:p.Gly1357Arg
XM_011530849.1:c.3745G>A	XP_011529151.1:p.Gly1249Arg
XM_011530851.1:c.1642G>A	XP_011529153.1:p.Gly548Arg
XM_011530849.2:c.4084G>A	XP_011529151.2:p.Gly1362Arg
XM_017029259.2:c.4075G>A	XP_016884748.1:p.Gly1359Arg
XM_017029260.1:c.4066G>A	XP_016884749.1:p.Gly1356Arg
XM_017029263.2:c.2404G>A	XP_016884752.1:p.Gly802Arg
NM_000495.5:c.4051G>A	NP_000486.1:p.Gly1351Arg
NM_033380.3:c.4069G>A MANE Select	NP_203699.1:p.Gly1357Arg