Canonical Allele Identifier: CA2450541967
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157149A= , CM000685.2:g.108157149A= GRCh38
NC_000023.10:g.107400379A= , CM000685.1:g.107400379A= GRCh37
NC_000023.9:g.107287035A= NCBI36
NG_012059.2:g.287326T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4924T= MANE Select ENSP00000334733.7:p.Cys1642=
ENST00000334504.11:c.4924T= ENSP00000334733.7:p.Cys1642=
ENST00000372216.8:c.4927T= ENSP00000361290.4:p.Cys1643=
ENST00000394872.6:c.4975T= ENSP00000378340.3:p.Cys1659=
ENST00000538570.5:c.4753T= ENSP00000445236.1:p.Cys1585=
ENST00000545689.2:c.4888T= ENSP00000443707.2:p.Cys1630=
ENST00000621266.4:c.4852T= ENSP00000482970.1:p.Cys1618=
NM_001287758.1:c.4975T= NP_001274687.1:p.Cys1659=
NM_001287759.1:c.4852T= NP_001274688.1:p.Cys1618=
NM_001287760.1:c.4753T= NP_001274689.1:p.Cys1585=
NM_001847.3:c.4927T= NP_001838.2:p.Cys1643=
NM_033641.3:c.4924T= NP_378667.1:p.Cys1642=
XM_006724617.2:c.4978T= XP_006724680.1:p.Cys1660=
XM_011530852.1:c.4906T= XP_011529154.1:p.Cys1636=
XM_011530853.1:c.4894T= XP_011529155.1:p.Cys1632=
XM_006724617.3:c.4978T= XP_006724680.1:p.Cys1660=
XM_011530852.2:c.4906T= XP_011529154.1:p.Cys1636=
XM_011530853.3:c.4894T= XP_011529155.1:p.Cys1632=
NM_001847.4:c.4927T= NP_001838.2:p.Cys1643=
NM_033641.4:c.4924T= MANE Select NP_378667.1:p.Cys1642=
NM_001287758.2:c.4975T= NP_001274687.1:p.Cys1659=
NM_001287759.2:c.4852T= NP_001274688.1:p.Cys1618=
NM_001287760.2:c.4753T= NP_001274689.1:p.Cys1585=