Canonical Allele Identifier: CA2450541898
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108156944G= , CM000685.2:g.108156944G= GRCh38
NC_000023.10:g.107400174G= , CM000685.1:g.107400174G= GRCh37
NC_000023.9:g.107286830G= NCBI36
NG_012059.2:g.287531C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.*56C= MANE Select ENSP00000334733.7:n.*56C=
ENST00000334504.11:c.*56C= ENSP00000334733.7:n.*56C=
ENST00000372216.8:c.*56C= ENSP00000361290.4:n.*56C=
ENST00000394872.6:c.*56C= ENSP00000378340.3:n.*56C=
ENST00000538570.5:c.*56C= ENSP00000445236.1:n.*56C=
ENST00000545689.2:c.*56C= ENSP00000443707.2:n.*56C=
ENST00000621266.4:c.*56C= ENSP00000482970.1:n.*56C=
NM_001287758.1:c.*56C= NP_001274687.1:n.*56C=
NM_001287759.1:c.*56C= NP_001274688.1:n.*56C=
NM_001287760.1:c.*56C= NP_001274689.1:n.*56C=
NM_001847.3:c.*56C= NP_001838.2:n.*56C=
NM_033641.3:c.*56C= NP_378667.1:n.*56C=
XM_006724617.2:c.*56C= XP_006724680.1:n.*56C=
XM_011530852.1:c.*56C= XP_011529154.1:n.*56C=
XM_011530853.1:c.*56C= XP_011529155.1:n.*56C=
XM_006724617.3:c.*56C= XP_006724680.1:n.*56C=
XM_011530852.2:c.*56C= XP_011529154.1:n.*56C=
XM_011530853.3:c.*56C= XP_011529155.1:n.*56C=
NM_001847.4:c.*56C= NP_001838.2:n.*56C=
NM_033641.4:c.*56C= MANE Select NP_378667.1:n.*56C=
NM_001287758.2:c.*56C= NP_001274687.1:n.*56C=
NM_001287759.2:c.*56C= NP_001274688.1:n.*56C=
NM_001287760.2:c.*56C= NP_001274689.1:n.*56C=