Canonical Allele Identifier: CA2450721756
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695358G= , CM000685.2:g.108695358G= GRCh38
NC_000023.10:g.107938588G= , CM000685.1:g.107938588G= GRCh37
NC_000023.9:g.107825244G= NCBI36
NG_011977.1:g.260435G=
NG_011977.2:g.260435G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4913G= MANE Select ENSP00000331902.7:p.Cys1638=
ENST00000361603.7:c.4895G= ENSP00000354505.2:p.Cys1632=
ENST00000510690.2:n.1407G=
ENST00000644079.1:n.1744G=
ENST00000328300.10:c.4913G= ENSP00000331902.6:p.Cys1638=
ENST00000361603.6:c.4895G= ENSP00000354505.2:p.Cys1632=
ENST00000504541.1:c.219+437G= ENSP00000424845.1:n.219+437G=
ENST00000515658.1:c.325-939G=
NM_000495.4:c.4895G= NP_000486.1:p.Cys1632=
NM_033380.2:c.4913G= NP_203699.1:p.Cys1638=
XM_005262070.2:c.4904G= XP_005262127.1:p.Cys1635=
XM_006724616.2:c.4913G= XP_006724679.1:p.Cys1638=
XM_011530849.1:c.4589G= XP_011529151.1:p.Cys1530=
XM_011530851.1:c.2486G= XP_011529153.1:p.Cys829=
XM_011530849.2:c.4928G= XP_011529151.2:p.Cys1643=
XM_017029259.2:c.4919G= XP_016884748.1:p.Cys1640=
XM_017029260.1:c.4910G= XP_016884749.1:p.Cys1637=
XM_017029263.2:c.3248G= XP_016884752.1:p.Cys1083=
NM_000495.5:c.4895G= NP_000486.1:p.Cys1632=
NM_033380.3:c.4913G= MANE Select NP_203699.1:p.Cys1638=