Canonical Allele Identifier: CA413851221

Gene: COL4A5

Linked Data

• gnomAD v4: X-108680947-G-T
• MyVariant Identifiers: chrX:g.107924177G>T (hg19) ; chrX:g.108680947G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680947G>T , CM000685.2:g.108680947G>T	GRCh38
NC_000023.10:g.107924177G>T , CM000685.1:g.107924177G>T	GRCh37
NC_000023.9:g.107810833G>T	NCBI36
NG_011977.1:g.246024G>T
NG_011977.2:g.246024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4078G>T MANE Select	ENSP00000331902.7:p.Gly1360Cys
ENST00000361603.7:c.4060G>T	ENSP00000354505.2:p.Gly1354Cys
ENST00000510690.2:n.572G>T
ENST00000328300.10:c.4078G>T	ENSP00000331902.6:p.Gly1360Cys
ENST00000361603.6:c.4060G>T	ENSP00000354505.2:p.Gly1354Cys
ENST00000489230.1:n.481G>T
NM_000495.4:c.4060G>T	NP_000486.1:p.Gly1354Cys
NM_033380.2:c.4078G>T	NP_203699.1:p.Gly1360Cys
XM_005262070.2:c.4069G>T	XP_005262127.1:p.Gly1357Cys
XM_006724616.2:c.4078G>T	XP_006724679.1:p.Gly1360Cys
XM_011530849.1:c.3754G>T	XP_011529151.1:p.Gly1252Cys
XM_011530851.1:c.1651G>T	XP_011529153.1:p.Gly551Cys
XM_011530849.2:c.4093G>T	XP_011529151.2:p.Gly1365Cys
XM_017029259.2:c.4084G>T	XP_016884748.1:p.Gly1362Cys
XM_017029260.1:c.4075G>T	XP_016884749.1:p.Gly1359Cys
XM_017029263.2:c.2413G>T	XP_016884752.1:p.Gly805Cys
NM_000495.5:c.4060G>T	NP_000486.1:p.Gly1354Cys
NM_033380.3:c.4078G>T MANE Select	NP_203699.1:p.Gly1360Cys