Canonical Allele Identifier: CA2694415452
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694789C>A , CM000685.2:g.108694789C>A GRCh38
NC_000023.10:g.107938019C>A , CM000685.1:g.107938019C>A GRCh37
NC_000023.9:g.107824675C>A NCBI36
NG_011977.1:g.259866C>A
NG_011977.2:g.259866C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4707-18C>A MANE Select ENSP00000331902.7:n.4707-18C>A
ENST00000361603.7:c.4689-18C>A ENSP00000354505.2:n.4689-18C>A
ENST00000510690.2:n.1201-18C>A
ENST00000644079.1:n.1175C>A
ENST00000328300.10:c.4707-18C>A ENSP00000331902.6:n.4707-18C>A
ENST00000361603.6:c.4689-18C>A ENSP00000354505.2:n.4689-18C>A
ENST00000504541.1:c.105-18C>A ENSP00000424845.1:n.105-18C>A
ENST00000515658.1:c.325-1508C>A
NM_000495.4:c.4689-18C>A NP_000486.1:n.4689-18C>A
NM_033380.2:c.4707-18C>A NP_203699.1:n.4707-18C>A
XM_005262070.2:c.4698-18C>A XP_005262127.1:n.4698-18C>A
XM_006724616.2:c.4707-18C>A XP_006724679.1:n.4707-18C>A
XM_011530849.1:c.4383-18C>A XP_011529151.1:n.4383-18C>A
XM_011530851.1:c.2280-18C>A XP_011529153.1:n.2280-18C>A
XM_011530849.2:c.4722-18C>A XP_011529151.2:n.4722-18C>A
XM_017029259.2:c.4713-18C>A XP_016884748.1:n.4713-18C>A
XM_017029260.1:c.4704-18C>A XP_016884749.1:n.4704-18C>A
XM_017029263.2:c.3042-18C>A XP_016884752.1:n.3042-18C>A
NM_000495.5:c.4689-18C>A NP_000486.1:n.4689-18C>A
NM_033380.3:c.4707-18C>A MANE Select NP_203699.1:n.4707-18C>A