Canonical Allele Identifier: CA417968622

Gene: C8B

Linked Data

• dbSNP Id: rs1282667618
• gnomAD v2: 1-57422482-T-A
• gnomAD v4: 1-56956809-T-A
• MyVariant Identifiers: chr1:g.57422482T>A (hg19) ; chr1:g.56956809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956809T>A , CM000663.2:g.56956809T>A	GRCh38
NC_000001.10:g.57422482T>A , CM000663.1:g.57422482T>A	GRCh37
NC_000001.9:g.57195070T>A	NCBI36
NG_007285.1:g.14207A>T , LRG_31:g.14207A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000468990.2:c.*192A>T	ENSP00000512215.1:n.*192A>T
ENST00000494324.2:c.*456A>T	ENSP00000512216.1:n.*456A>T
ENST00000695842.1:c.351A>T	ENSP00000512214.1:p.Gly117=
ENST00000695843.1:c.*192A>T	ENSP00000512217.1:n.*192A>T
ENST00000696144.1:c.351A>T	ENSP00000512436.1:p.Gly117=
ENST00000696164.1:c.351A>T	ENSP00000512454.1:p.Gly117=
ENST00000696165.1:c.*192A>T	ENSP00000512455.1:n.*192A>T
ENST00000696166.1:c.*192A>T	ENSP00000512456.1:n.*192A>T
ENST00000371237.9:c.351A>T MANE Select	ENSP00000360281.4:p.Gly117=
ENST00000371237.8:c.351A>T	ENSP00000360281.4:p.Gly117=
ENST00000535057.5:c.165A>T	ENSP00000440113.1:p.Gly55=
ENST00000543257.5:c.195A>T	ENSP00000442548.1:p.Gly65=
NM_000066.3:c.351A>T	NP_000057.2:p.Arg117Ser
NM_001278543.1:c.195A>T	NP_001265472.1:p.Arg65Ser
NM_001278544.1:c.165A>T	NP_001265473.1:p.Arg55Ser
XM_017002235.1:c.351A>T	XP_016857724.1:p.Gly117=
XR_001737397.1:n.451A>T
NM_000066.4:c.351A>T MANE Select	NP_000057.3:p.Gly117=
NM_001278543.2:c.195A>T	NP_001265472.2:p.Gly65=
NM_001278544.2:c.165A>T	NP_001265473.2:p.Gly55=