Canonical Allele Identifier: CA517922193
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2982693
ClinVar RCV Id: RCV003845324
dbSNP Id: rs1300623521

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108597541A>G , CM000685.2:g.108597541A>G GRCh38
NC_000023.10:g.107840771A>G , CM000685.1:g.107840771A>G GRCh37
NC_000023.9:g.107727427A>G NCBI36
NG_011977.1:g.162618A>G
NG_011977.2:g.162618A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1752A>G MANE Select ENSP00000331902.7:p.Pro584=
ENST00000361603.7:c.1752A>G ENSP00000354505.2:p.Pro584=
ENST00000328300.10:c.1752A>G ENSP00000331902.6:p.Pro584=
ENST00000361603.6:c.1752A>G ENSP00000354505.2:p.Pro584=
ENST00000483338.1:n.1208A>G
NM_000495.4:c.1752A>G NP_000486.1:p.Pro584=
NM_033380.2:c.1752A>G NP_203699.1:p.Pro584=
XM_005262070.2:c.1752A>G XP_005262127.1:p.Pro584=
XM_005262072.3:c.1752A>G XP_005262129.1:p.Pro584=
XM_006724616.2:c.1752A>G XP_006724679.1:p.Pro584=
XM_011530849.1:c.1428A>G XP_011529151.1:p.Pro476=
XM_011530850.1:c.1752A>G XP_011529152.1:p.Pro584=
XM_011530849.2:c.1767A>G XP_011529151.2:p.Pro589=
XM_017029259.2:c.1767A>G XP_016884748.1:p.Pro589=
XM_017029260.1:c.1767A>G XP_016884749.1:p.Pro589=
XM_017029261.1:c.1767A>G XP_016884750.1:p.Pro589=
XM_017029262.2:c.1767A>G XP_016884751.1:p.Pro589=
XM_017029263.2:c.87A>G XP_016884752.1:p.Pro29=
NM_000495.5:c.1752A>G NP_000486.1:p.Pro584=
NM_033380.3:c.1752A>G MANE Select NP_203699.1:p.Pro584=