Canonical Allele Identifier: CA2450718775
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686096C= , CM000685.2:g.108686096C= GRCh38
NC_000023.10:g.107929326C= , CM000685.1:g.107929326C= GRCh37
NC_000023.9:g.107815982C= NCBI36
NG_011977.1:g.251173C=
NG_011977.2:g.251173C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4282C= MANE Select ENSP00000331902.7:p.Arg1428=
ENST00000361603.7:c.4264C= ENSP00000354505.2:p.Arg1422=
ENST00000510690.2:n.776C=
ENST00000328300.10:c.4282C= ENSP00000331902.6:p.Arg1428=
ENST00000361603.6:c.4264C= ENSP00000354505.2:p.Arg1422=
ENST00000489230.1:n.685C=
ENST00000515658.1:c.78C=
NM_000495.4:c.4264C= NP_000486.1:p.Arg1422=
NM_033380.2:c.4282C= NP_203699.1:p.Arg1428=
XM_005262070.2:c.4273C= XP_005262127.1:p.Arg1425=
XM_006724616.2:c.4282C= XP_006724679.1:p.Arg1428=
XM_011530849.1:c.3958C= XP_011529151.1:p.Arg1320=
XM_011530851.1:c.1855C= XP_011529153.1:p.Arg619=
XM_011530849.2:c.4297C= XP_011529151.2:p.Arg1433=
XM_017029259.2:c.4288C= XP_016884748.1:p.Arg1430=
XM_017029260.1:c.4279C= XP_016884749.1:p.Arg1427=
XM_017029263.2:c.2617C= XP_016884752.1:p.Arg873=
NM_000495.5:c.4264C= NP_000486.1:p.Arg1422=
NM_033380.3:c.4282C= MANE Select NP_203699.1:p.Arg1428=