Canonical Allele Identifier: CA2694414834
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687453C>G , CM000685.2:g.108687453C>G GRCh38
NC_000023.10:g.107930683C>G , CM000685.1:g.107930683C>G GRCh37
NC_000023.9:g.107817339C>G NCBI36
NG_011977.1:g.252530C>G
NG_011977.2:g.252530C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4316-29C>G MANE Select ENSP00000331902.7:n.4316-29C>G
ENST00000361603.7:c.4298-29C>G ENSP00000354505.2:n.4298-29C>G
ENST00000510690.2:n.810-29C>G
ENST00000328300.10:c.4316-29C>G ENSP00000331902.6:n.4316-29C>G
ENST00000361603.6:c.4298-29C>G ENSP00000354505.2:n.4298-29C>G
ENST00000489230.1:n.719-29C>G
ENST00000515658.1:c.112-29C>G
NM_000495.4:c.4298-29C>G NP_000486.1:n.4298-29C>G
NM_033380.2:c.4316-29C>G NP_203699.1:n.4316-29C>G
XM_005262070.2:c.4307-29C>G XP_005262127.1:n.4307-29C>G
XM_006724616.2:c.4316-29C>G XP_006724679.1:n.4316-29C>G
XM_011530849.1:c.3992-29C>G XP_011529151.1:n.3992-29C>G
XM_011530851.1:c.1889-29C>G XP_011529153.1:n.1889-29C>G
XM_011530849.2:c.4331-29C>G XP_011529151.2:n.4331-29C>G
XM_017029259.2:c.4322-29C>G XP_016884748.1:n.4322-29C>G
XM_017029260.1:c.4313-29C>G XP_016884749.1:n.4313-29C>G
XM_017029263.2:c.2651-29C>G XP_016884752.1:n.2651-29C>G
NM_000495.5:c.4298-29C>G NP_000486.1:n.4298-29C>G
NM_033380.3:c.4316-29C>G MANE Select NP_203699.1:n.4316-29C>G