Canonical Allele Identifier: CA340510555
Gene: C8B HGNC NCBI

Linked Data

dbSNP Id: rs1013579
MyVariant Identifiers: chr1:g.57422484C>G (hg19) chr1:g.56956811C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56956811C>G , CM000663.2:g.56956811C>G GRCh38
NC_000001.10:g.57422484C>G , CM000663.1:g.57422484C>G GRCh37
NC_000001.9:g.57195072C>G NCBI36
NG_007285.1:g.14205G>C , LRG_31:g.14205G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000468990.2:c.*190G>C ENSP00000512215.1:n.*190G>C
ENST00000494324.2:c.*454G>C ENSP00000512216.1:n.*454G>C
ENST00000695842.1:c.349G>C ENSP00000512214.1:p.Gly117Arg
ENST00000695843.1:c.*190G>C ENSP00000512217.1:n.*190G>C
ENST00000696144.1:c.349G>C ENSP00000512436.1:p.Gly117Arg
ENST00000696164.1:c.349G>C ENSP00000512454.1:p.Gly117Arg
ENST00000696165.1:c.*190G>C ENSP00000512455.1:n.*190G>C
ENST00000696166.1:c.*190G>C ENSP00000512456.1:n.*190G>C
ENST00000371237.9:c.349G>C MANE Select ENSP00000360281.4:p.Gly117Arg
ENST00000371237.8:c.349G>C ENSP00000360281.4:p.Gly117Arg
ENST00000535057.5:c.163G>C ENSP00000440113.1:p.Gly55Arg
ENST00000543257.5:c.193G>C ENSP00000442548.1:p.Gly65Arg
XM_017002235.1:c.349G>C XP_016857724.1:p.Gly117Arg
XR_001737397.1:n.449G>C
NM_000066.4:c.349G>C MANE Select NP_000057.3:p.Gly117Arg
NM_001278543.2:c.193G>C NP_001265472.2:p.Gly65Arg
NM_001278544.2:c.163G>C NP_001265473.2:p.Gly55Arg
Search 100 bp 5'
Search 100 bp 3'