Canonical Allele Identifier: CA258942

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24676
• ClinVar RCV Id: RCV000021555 ; RCV001857352
• dbSNP Id: rs104886255
• MyVariant Identifiers: chrX:g.107911665G>T (hg19) ; chrX:g.108668435G>T (hg38)
• PubMed: PMID:9195222

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668435G>T , CM000685.2:g.108668435G>T	GRCh38
NC_000023.10:g.107911665G>T , CM000685.1:g.107911665G>T	GRCh37
NC_000023.9:g.107798321G>T	NCBI36
NG_011977.1:g.233512G>T
NG_011977.2:g.233512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3721G>T MANE Select	ENSP00000331902.7:p.Gly1241Cys
ENST00000361603.7:c.3721G>T	ENSP00000354505.2:p.Gly1241Cys
ENST00000328300.10:c.3721G>T	ENSP00000331902.6:p.Gly1241Cys
ENST00000361603.6:c.3721G>T	ENSP00000354505.2:p.Gly1241Cys
NM_000495.4:c.3721G>T	NP_000486.1:p.Gly1241Cys
NM_033380.2:c.3721G>T	NP_203699.1:p.Gly1241Cys
XM_005262070.2:c.3721G>T	XP_005262127.1:p.Gly1241Cys
XM_006724616.2:c.3721G>T	XP_006724679.1:p.Gly1241Cys
XM_011530849.1:c.3397G>T	XP_011529151.1:p.Gly1133Cys
XM_011530850.1:c.3721G>T	XP_011529152.1:p.Gly1241Cys
XM_011530851.1:c.1294G>T	XP_011529153.1:p.Gly432Cys
XM_011530849.2:c.3736G>T	XP_011529151.2:p.Gly1246Cys
XM_017029259.2:c.3736G>T	XP_016884748.1:p.Gly1246Cys
XM_017029260.1:c.3736G>T	XP_016884749.1:p.Gly1246Cys
XM_017029261.1:c.3736G>T	XP_016884750.1:p.Gly1246Cys
XM_017029262.2:c.3736G>T	XP_016884751.1:p.Gly1246Cys
XM_017029263.2:c.2056G>T	XP_016884752.1:p.Gly686Cys
NM_000495.5:c.3721G>T	NP_000486.1:p.Gly1241Cys
NM_033380.3:c.3721G>T MANE Select	NP_203699.1:p.Gly1241Cys