Canonical Allele Identifier: CA340510544

Gene: C8B

Linked Data

• ClinVar Variation Id: 1457268
• ClinVar RCV Id: RCV001972600
• dbSNP Id: rs760669928
• gnomAD v4: 1-56956805-G-A
• MyVariant Identifiers: chr1:g.57422478G>A (hg19) ; chr1:g.56956805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956805G>A , CM000663.2:g.56956805G>A	GRCh38
NC_000001.10:g.57422478G>A , CM000663.1:g.57422478G>A	GRCh37
NC_000001.9:g.57195066G>A	NCBI36
NG_007285.1:g.14211C>T , LRG_31:g.14211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468990.2:c.*196C>T	ENSP00000512215.1:n.*196C>T
ENST00000494324.2:c.*460C>T	ENSP00000512216.1:n.*460C>T
ENST00000695842.1:c.355C>T	ENSP00000512214.1:p.Gln119Ter
ENST00000695843.1:c.*196C>T	ENSP00000512217.1:n.*196C>T
ENST00000696144.1:c.355C>T	ENSP00000512436.1:p.Gln119Ter
ENST00000696164.1:c.355C>T	ENSP00000512454.1:p.Gln119Ter
ENST00000696165.1:c.*196C>T	ENSP00000512455.1:n.*196C>T
ENST00000696166.1:c.*196C>T	ENSP00000512456.1:n.*196C>T
ENST00000371237.9:c.355C>T MANE Select	ENSP00000360281.4:p.Gln119Ter
ENST00000371237.8:c.355C>T	ENSP00000360281.4:p.Gln119Ter
ENST00000535057.5:c.169C>T	ENSP00000440113.1:p.Gln57Ter
ENST00000543257.5:c.199C>T	ENSP00000442548.1:p.Gln67Ter
NM_000066.3:c.355C>T	NP_000057.2:p.Gln119Ter
NM_001278543.1:c.199C>T	NP_001265472.1:p.Gln67Ter
NM_001278544.1:c.169C>T	NP_001265473.1:p.Gln57Ter
XM_017002235.1:c.355C>T	XP_016857724.1:p.Gln119Ter
XR_001737397.1:n.455C>T
NM_000066.4:c.355C>T MANE Select	NP_000057.3:p.Gln119Ter
NM_001278543.2:c.199C>T	NP_001265472.2:p.Gln67Ter
NM_001278544.2:c.169C>T	NP_001265473.2:p.Gln57Ter