Canonical Allele Identifier: CA2450541978
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157168G= , CM000685.2:g.108157168G= GRCh38
NC_000023.10:g.107400398G= , CM000685.1:g.107400398G= GRCh37
NC_000023.9:g.107287054G= NCBI36
NG_012059.2:g.287307C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4905C= MANE Select ENSP00000334733.7:p.Cys1635=
ENST00000334504.11:c.4905C= ENSP00000334733.7:p.Cys1635=
ENST00000372216.8:c.4908C= ENSP00000361290.4:p.Cys1636=
ENST00000394872.6:c.4956C= ENSP00000378340.3:p.Cys1652=
ENST00000538570.5:c.4734C= ENSP00000445236.1:p.Cys1578=
ENST00000545689.2:c.4869C= ENSP00000443707.2:p.Cys1623=
ENST00000621266.4:c.4833C= ENSP00000482970.1:p.Cys1611=
NM_001287758.1:c.4956C= NP_001274687.1:p.Cys1652=
NM_001287759.1:c.4833C= NP_001274688.1:p.Cys1611=
NM_001287760.1:c.4734C= NP_001274689.1:p.Cys1578=
NM_001847.3:c.4908C= NP_001838.2:p.Cys1636=
NM_033641.3:c.4905C= NP_378667.1:p.Cys1635=
XM_006724617.2:c.4959C= XP_006724680.1:p.Cys1653=
XM_011530852.1:c.4887C= XP_011529154.1:p.Cys1629=
XM_011530853.1:c.4875C= XP_011529155.1:p.Cys1625=
XM_006724617.3:c.4959C= XP_006724680.1:p.Cys1653=
XM_011530852.2:c.4887C= XP_011529154.1:p.Cys1629=
XM_011530853.3:c.4875C= XP_011529155.1:p.Cys1625=
NM_001847.4:c.4908C= NP_001838.2:p.Cys1636=
NM_033641.4:c.4905C= MANE Select NP_378667.1:p.Cys1635=
NM_001287758.2:c.4956C= NP_001274687.1:p.Cys1652=
NM_001287759.2:c.4833C= NP_001274688.1:p.Cys1611=
NM_001287760.2:c.4734C= NP_001274689.1:p.Cys1578=