Canonical Allele Identifier: CA413853986

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2633972
• ClinVar RCV Id: RCV003400415
• MyVariant Identifiers: chrX:g.107930738G>T (hg19) ; chrX:g.108687508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687508G>T , CM000685.2:g.108687508G>T	GRCh38
NC_000023.10:g.107930738G>T , CM000685.1:g.107930738G>T	GRCh37
NC_000023.9:g.107817394G>T	NCBI36
NG_011977.1:g.252585G>T
NG_011977.2:g.252585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4342G>T MANE Select	ENSP00000331902.7:p.Gly1448Cys
ENST00000361603.7:c.4324G>T	ENSP00000354505.2:p.Gly1442Cys
ENST00000510690.2:n.836G>T
ENST00000328300.10:c.4342G>T	ENSP00000331902.6:p.Gly1448Cys
ENST00000361603.6:c.4324G>T	ENSP00000354505.2:p.Gly1442Cys
ENST00000515658.1:c.138G>T
NM_000495.4:c.4324G>T	NP_000486.1:p.Gly1442Cys
NM_033380.2:c.4342G>T	NP_203699.1:p.Gly1448Cys
XM_005262070.2:c.4333G>T	XP_005262127.1:p.Gly1445Cys
XM_006724616.2:c.4342G>T	XP_006724679.1:p.Gly1448Cys
XM_011530849.1:c.4018G>T	XP_011529151.1:p.Gly1340Cys
XM_011530851.1:c.1915G>T	XP_011529153.1:p.Gly639Cys
XM_011530849.2:c.4357G>T	XP_011529151.2:p.Gly1453Cys
XM_017029259.2:c.4348G>T	XP_016884748.1:p.Gly1450Cys
XM_017029260.1:c.4339G>T	XP_016884749.1:p.Gly1447Cys
XM_017029263.2:c.2677G>T	XP_016884752.1:p.Gly893Cys
NM_000495.5:c.4324G>T	NP_000486.1:p.Gly1442Cys
NM_033380.3:c.4342G>T MANE Select	NP_203699.1:p.Gly1448Cys