Canonical Allele Identifier: CA259147

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24786
• ClinVar RCV Id: RCV001389982 ; RCV002470715
• dbSNP Id: rs104886306
• MyVariant Identifiers: chrX:g.107939579C>T (hg19) ; chrX:g.108696349C>T (hg38)
• PubMed: PMID:9848783

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696349C>T , CM000685.2:g.108696349C>T	GRCh38
NC_000023.10:g.107939579C>T , CM000685.1:g.107939579C>T	GRCh37
NC_000023.9:g.107826235C>T	NCBI36
NG_011977.1:g.261426C>T
NG_011977.2:g.261426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5047C>T MANE Select	ENSP00000331902.7:p.Arg1683Ter
ENST00000361603.7:c.5029C>T	ENSP00000354505.2:p.Arg1677Ter
ENST00000510690.2:n.1541C>T
ENST00000644079.1:n.2735C>T
ENST00000328300.10:c.5047C>T	ENSP00000331902.6:p.Arg1683Ter
ENST00000361603.6:c.5029C>T	ENSP00000354505.2:p.Arg1677Ter
ENST00000504541.1:c.272C>T	ENSP00000424845.1:n.272C>T
ENST00000515658.1:c.377C>T
NM_000495.4:c.5029C>T	NP_000486.1:p.Arg1677Ter
NM_033380.2:c.5047C>T	NP_203699.1:p.Arg1683Ter
XM_005262070.2:c.5038C>T	XP_005262127.1:p.Arg1680Ter
XM_006724616.2:c.5047C>T	XP_006724679.1:p.Arg1683Ter
XM_011530849.1:c.4723C>T	XP_011529151.1:p.Arg1575Ter
XM_011530851.1:c.2620C>T	XP_011529153.1:p.Arg874Ter
XM_011530849.2:c.5062C>T	XP_011529151.2:p.Arg1688Ter
XM_017029259.2:c.5053C>T	XP_016884748.1:p.Arg1685Ter
XM_017029260.1:c.5044C>T	XP_016884749.1:p.Arg1682Ter
XM_017029263.2:c.3382C>T	XP_016884752.1:p.Arg1128Ter
NM_000495.5:c.5029C>T	NP_000486.1:p.Arg1677Ter
NM_033380.3:c.5047C>T MANE Select	NP_203699.1:p.Arg1683Ter