Canonical Allele Identifier: CA1168786766
Gene: C8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56956800C= , CM000663.2:g.56956800C= GRCh38
NC_000001.10:g.57422473C= , CM000663.1:g.57422473C= GRCh37
NC_000001.9:g.57195061C= NCBI36
NG_007285.1:g.14216G= , LRG_31:g.14216G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000468990.2:c.*201G= ENSP00000512215.1:n.*201G=
ENST00000494324.2:c.*465G= ENSP00000512216.1:n.*465G=
ENST00000695842.1:c.360G= ENSP00000512214.1:p.Val120=
ENST00000695843.1:c.*201G= ENSP00000512217.1:n.*201G=
ENST00000696144.1:c.360G= ENSP00000512436.1:p.Val120=
ENST00000696164.1:c.360G= ENSP00000512454.1:p.Val120=
ENST00000696165.1:c.*201G= ENSP00000512455.1:n.*201G=
ENST00000696166.1:c.*201G= ENSP00000512456.1:n.*201G=
ENST00000371237.9:c.360G= MANE Select ENSP00000360281.4:p.Val120=
ENST00000371237.8:c.360G= ENSP00000360281.4:p.Val120=
ENST00000535057.5:c.174G= ENSP00000440113.1:p.Val58=
ENST00000543257.5:c.204G= ENSP00000442548.1:p.Val68=
NM_000066.3:c.360G= NP_000057.2:p.Val120=
NM_001278543.1:c.204G= NP_001265472.1:p.Val68=
NM_001278544.1:c.174G= NP_001265473.1:p.Val58=
XM_017002235.1:c.360G= XP_016857724.1:p.Val120=
XR_001737397.1:n.460G=
NM_000066.4:c.360G= MANE Select NP_000057.3:p.Val120=
NM_001278543.2:c.204G= NP_001265472.2:p.Val68=
NM_001278544.2:c.174G= NP_001265473.2:p.Val58=