Canonical Allele Identifier: CA413851223

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1072947
• ClinVar RCV Id: RCV001385799
• dbSNP Id: rs2147980527
• MyVariant Identifiers: chrX:g.107924178G>A (hg19) ; chrX:g.108680948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680948G>A , CM000685.2:g.108680948G>A	GRCh38
NC_000023.10:g.107924178G>A , CM000685.1:g.107924178G>A	GRCh37
NC_000023.9:g.107810834G>A	NCBI36
NG_011977.1:g.246025G>A
NG_011977.2:g.246025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4079G>A MANE Select	ENSP00000331902.7:p.Gly1360Asp
ENST00000361603.7:c.4061G>A	ENSP00000354505.2:p.Gly1354Asp
ENST00000510690.2:n.573G>A
ENST00000328300.10:c.4079G>A	ENSP00000331902.6:p.Gly1360Asp
ENST00000361603.6:c.4061G>A	ENSP00000354505.2:p.Gly1354Asp
ENST00000489230.1:n.482G>A
NM_000495.4:c.4061G>A	NP_000486.1:p.Gly1354Asp
NM_033380.2:c.4079G>A	NP_203699.1:p.Gly1360Asp
XM_005262070.2:c.4070G>A	XP_005262127.1:p.Gly1357Asp
XM_006724616.2:c.4079G>A	XP_006724679.1:p.Gly1360Asp
XM_011530849.1:c.3755G>A	XP_011529151.1:p.Gly1252Asp
XM_011530851.1:c.1652G>A	XP_011529153.1:p.Gly551Asp
XM_011530849.2:c.4094G>A	XP_011529151.2:p.Gly1365Asp
XM_017029259.2:c.4085G>A	XP_016884748.1:p.Gly1362Asp
XM_017029260.1:c.4076G>A	XP_016884749.1:p.Gly1359Asp
XM_017029263.2:c.2414G>A	XP_016884752.1:p.Gly805Asp
NM_000495.5:c.4061G>A	NP_000486.1:p.Gly1354Asp
NM_033380.3:c.4079G>A MANE Select	NP_203699.1:p.Gly1360Asp