Canonical Allele Identifier: CA2450716939
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681007G= , CM000685.2:g.108681007G= GRCh38
NC_000023.10:g.107924237G= , CM000685.1:g.107924237G= GRCh37
NC_000023.9:g.107810893G= NCBI36
NG_011977.1:g.246084G=
NG_011977.2:g.246084G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4087+51G= MANE Select ENSP00000331902.7:n.4087+51G=
ENST00000361603.7:c.4069+51G= ENSP00000354505.2:n.4069+51G=
ENST00000510690.2:n.581+51G=
ENST00000328300.10:c.4087+51G= ENSP00000331902.6:n.4087+51G=
ENST00000361603.6:c.4069+51G= ENSP00000354505.2:n.4069+51G=
ENST00000489230.1:n.490+51G=
NM_000495.4:c.4069+51G= NP_000486.1:n.4069+51G=
NM_033380.2:c.4087+51G= NP_203699.1:n.4087+51G=
XM_005262070.2:c.4078+51G= XP_005262127.1:n.4078+51G=
XM_006724616.2:c.4087+51G= XP_006724679.1:n.4087+51G=
XM_011530849.1:c.3763+51G= XP_011529151.1:n.3763+51G=
XM_011530851.1:c.1660+51G= XP_011529153.1:n.1660+51G=
XM_011530849.2:c.4102+51G= XP_011529151.2:n.4102+51G=
XM_017029259.2:c.4093+51G= XP_016884748.1:n.4093+51G=
XM_017029260.1:c.4084+51G= XP_016884749.1:n.4084+51G=
XM_017029263.2:c.2422+51G= XP_016884752.1:n.2422+51G=
NM_000495.5:c.4069+51G= NP_000486.1:n.4069+51G=
NM_033380.3:c.4087+51G= MANE Select NP_203699.1:n.4087+51G=