Canonical Allele Identifier: CA340510539

Gene: C8B

Linked Data

• MyVariant Identifiers: chr1:g.57422476T>G (hg19) ; chr1:g.56956803T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956803T>G , CM000663.2:g.56956803T>G	GRCh38
NC_000001.10:g.57422476T>G , CM000663.1:g.57422476T>G	GRCh37
NC_000001.9:g.57195064T>G	NCBI36
NG_007285.1:g.14213A>C , LRG_31:g.14213A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000468990.2:c.*198A>C	ENSP00000512215.1:n.*198A>C
ENST00000494324.2:c.*462A>C	ENSP00000512216.1:n.*462A>C
ENST00000695842.1:c.357A>C	ENSP00000512214.1:p.Gln119His
ENST00000695843.1:c.*198A>C	ENSP00000512217.1:n.*198A>C
ENST00000696144.1:c.357A>C	ENSP00000512436.1:p.Gln119His
ENST00000696164.1:c.357A>C	ENSP00000512454.1:p.Gln119His
ENST00000696165.1:c.*198A>C	ENSP00000512455.1:n.*198A>C
ENST00000696166.1:c.*198A>C	ENSP00000512456.1:n.*198A>C
ENST00000371237.9:c.357A>C MANE Select	ENSP00000360281.4:p.Gln119His
ENST00000371237.8:c.357A>C	ENSP00000360281.4:p.Gln119His
ENST00000535057.5:c.171A>C	ENSP00000440113.1:p.Gln57His
ENST00000543257.5:c.201A>C	ENSP00000442548.1:p.Gln67His
NM_000066.3:c.357A>C	NP_000057.2:p.Gln119His
NM_001278543.1:c.201A>C	NP_001265472.1:p.Gln67His
NM_001278544.1:c.171A>C	NP_001265473.1:p.Gln57His
XM_017002235.1:c.357A>C	XP_016857724.1:p.Gln119His
XR_001737397.1:n.457A>C
NM_000066.4:c.357A>C MANE Select	NP_000057.3:p.Gln119His
NM_001278543.2:c.201A>C	NP_001265472.2:p.Gln67His
NM_001278544.2:c.171A>C	NP_001265473.2:p.Gln57His