Canonical Allele Identifier: CA2450541928
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157002A= , CM000685.2:g.108157002A= GRCh38
NC_000023.10:g.107400232A= , CM000685.1:g.107400232A= GRCh37
NC_000023.9:g.107286888A= NCBI36
NG_012059.2:g.287473T=

Transcript Alleles

HGVS Amino-acid change
ENST00000334504.12:c.5071T= MANE Select ENSP00000334733.7:p.Ter1691=
ENST00000334504.11:c.5071T= ENSP00000334733.7:p.Ter1691=
ENST00000372216.8:c.5074T= ENSP00000361290.4:p.Ter1692=
ENST00000394872.6:c.5122T= ENSP00000378340.3:p.Ter1708=
ENST00000538570.5:c.4900T= ENSP00000445236.1:p.Ter1634=
ENST00000545689.2:c.5035T= ENSP00000443707.2:p.Ter1679=
ENST00000621266.4:c.4999T= ENSP00000482970.1:p.Ter1667=
NM_001287758.1:c.5122T= NP_001274687.1:p.Ter1708=
NM_001287759.1:c.4999T= NP_001274688.1:p.Ter1667=
NM_001287760.1:c.4900T= NP_001274689.1:p.Ter1634=
NM_001847.3:c.5074T= NP_001838.2:p.Ter1692=
NM_033641.3:c.5071T= NP_378667.1:p.Ter1691=
XM_006724617.2:c.5125T= XP_006724680.1:p.Ter1709=
XM_011530852.1:c.5053T= XP_011529154.1:p.Ter1685=
XM_011530853.1:c.5041T= XP_011529155.1:p.Ter1681=
XM_006724617.3:c.5125T= XP_006724680.1:p.Ter1709=
XM_011530852.2:c.5053T= XP_011529154.1:p.Ter1685=
XM_011530853.3:c.5041T= XP_011529155.1:p.Ter1681=
NM_001847.4:c.5074T= NP_001838.2:p.Ter1692=
NM_033641.4:c.5071T= MANE Select NP_378667.1:p.Ter1691=
NM_001287758.2:c.5122T= NP_001274687.1:p.Ter1708=
NM_001287759.2:c.4999T= NP_001274688.1:p.Ter1667=
NM_001287760.2:c.4900T= NP_001274689.1:p.Ter1634=