Canonical Allele Identifier: CA340510591

Gene: C8B

Linked Data

• ClinVar Variation Id: 3001043
• ClinVar RCV Id: RCV003852186
• dbSNP Id: rs1351661379
• gnomAD v3: 1-56956828-A-G
• gnomAD v4: 1-56956828-A-G
• MyVariant Identifiers: chr1:g.57422501A>G (hg19) ; chr1:g.56956828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956828A>G , CM000663.2:g.56956828A>G	GRCh38
NC_000001.10:g.57422501A>G , CM000663.1:g.57422501A>G	GRCh37
NC_000001.9:g.57195089A>G	NCBI36
NG_007285.1:g.14188T>C , LRG_31:g.14188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468990.2:c.*173T>C	ENSP00000512215.1:n.*173T>C
ENST00000494324.2:c.*437T>C	ENSP00000512216.1:n.*437T>C
ENST00000695842.1:c.332T>C	ENSP00000512214.1:p.Val111Ala
ENST00000695843.1:c.*173T>C	ENSP00000512217.1:n.*173T>C
ENST00000696144.1:c.332T>C	ENSP00000512436.1:p.Val111Ala
ENST00000696164.1:c.332T>C	ENSP00000512454.1:p.Val111Ala
ENST00000696165.1:c.*173T>C	ENSP00000512455.1:n.*173T>C
ENST00000696166.1:c.*173T>C	ENSP00000512456.1:n.*173T>C
ENST00000371237.9:c.332T>C MANE Select	ENSP00000360281.4:p.Val111Ala
ENST00000371237.8:c.332T>C	ENSP00000360281.4:p.Val111Ala
ENST00000535057.5:c.146T>C	ENSP00000440113.1:p.Val49Ala
ENST00000543257.5:c.176T>C	ENSP00000442548.1:p.Val59Ala
NM_000066.3:c.332T>C	NP_000057.2:p.Val111Ala
NM_001278543.1:c.176T>C	NP_001265472.1:p.Val59Ala
NM_001278544.1:c.146T>C	NP_001265473.1:p.Val49Ala
XM_017002235.1:c.332T>C	XP_016857724.1:p.Val111Ala
XR_001737397.1:n.432T>C
NM_000066.4:c.332T>C MANE Select	NP_000057.3:p.Val111Ala
NM_001278543.2:c.176T>C	NP_001265472.2:p.Val59Ala
NM_001278544.2:c.146T>C	NP_001265473.2:p.Val49Ala