Canonical Allele Identifier: CA413855024

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 804587
• ClinVar RCV Id: RCV000991631 ; RCV002488085
• dbSNP Id: rs104886221
• MyVariant Identifiers: chrX:g.107869530G>T (hg19) ; chrX:g.108626300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626300G>T , CM000685.2:g.108626300G>T	GRCh38
NC_000023.10:g.107869530G>T , CM000685.1:g.107869530G>T	GRCh37
NC_000023.9:g.107756186G>T	NCBI36
NG_011977.1:g.191377G>T
NG_011977.2:g.191377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3197G>T MANE Select	ENSP00000331902.7:p.Gly1066Val
ENST00000361603.7:c.3197G>T	ENSP00000354505.2:p.Gly1066Val
ENST00000328300.10:c.3197G>T	ENSP00000331902.6:p.Gly1066Val
ENST00000361603.6:c.3197G>T	ENSP00000354505.2:p.Gly1066Val
ENST00000483338.1:n.2653G>T
ENST00000505728.1:c.430G>T
NM_000495.4:c.3197G>T	NP_000486.1:p.Gly1066Val
NM_033380.2:c.3197G>T	NP_203699.1:p.Gly1066Val
XM_005262070.2:c.3197G>T	XP_005262127.1:p.Gly1066Val
XM_005262072.3:c.3197G>T	XP_005262129.1:p.Gly1066Val
XM_006724616.2:c.3197G>T	XP_006724679.1:p.Gly1066Val
XM_011530849.1:c.2873G>T	XP_011529151.1:p.Gly958Val
XM_011530850.1:c.3197G>T	XP_011529152.1:p.Gly1066Val
XM_011530851.1:c.770G>T	XP_011529153.1:p.Gly257Val
XM_011530849.2:c.3212G>T	XP_011529151.2:p.Gly1071Val
XM_017029259.2:c.3212G>T	XP_016884748.1:p.Gly1071Val
XM_017029260.1:c.3212G>T	XP_016884749.1:p.Gly1071Val
XM_017029261.1:c.3212G>T	XP_016884750.1:p.Gly1071Val
XM_017029262.2:c.3212G>T	XP_016884751.1:p.Gly1071Val
XM_017029263.2:c.1532G>T	XP_016884752.1:p.Gly511Val
NM_000495.5:c.3197G>T	NP_000486.1:p.Gly1066Val
NM_033380.3:c.3197G>T MANE Select	NP_203699.1:p.Gly1066Val