Canonical Allele Identifier: CA258998
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886405

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681867C>T , CM000685.2:g.108681867C>T GRCh38
NC_000023.10:g.107925097C>T , CM000685.1:g.107925097C>T GRCh37
NC_000023.9:g.107811753C>T NCBI36
NG_011977.1:g.246944C>T
NG_011977.2:g.246944C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4195C>T MANE Select ENSP00000331902.7:p.Gln1399Ter
ENST00000361603.7:c.4177C>T ENSP00000354505.2:p.Gln1393Ter
ENST00000510690.2:n.689C>T
ENST00000328300.10:c.4195C>T ENSP00000331902.6:p.Gln1399Ter
ENST00000361603.6:c.4177C>T ENSP00000354505.2:p.Gln1393Ter
ENST00000489230.1:n.598C>T
NM_000495.4:c.4177C>T NP_000486.1:p.Gln1393Ter
NM_033380.2:c.4195C>T NP_203699.1:p.Gln1399Ter
XM_005262070.2:c.4186C>T XP_005262127.1:p.Gln1396Ter
XM_006724616.2:c.4195C>T XP_006724679.1:p.Gln1399Ter
XM_011530849.1:c.3871C>T XP_011529151.1:p.Gln1291Ter
XM_011530851.1:c.1768C>T XP_011529153.1:p.Gln590Ter
XM_011530849.2:c.4210C>T XP_011529151.2:p.Gln1404Ter
XM_017029259.2:c.4201C>T XP_016884748.1:p.Gln1401Ter
XM_017029260.1:c.4192C>T XP_016884749.1:p.Gln1398Ter
XM_017029263.2:c.2530C>T XP_016884752.1:p.Gln844Ter
NM_000495.5:c.4177C>T NP_000486.1:p.Gln1393Ter
NM_033380.3:c.4195C>T MANE Select NP_203699.1:p.Gln1399Ter