Canonical Allele Identifier: CA340510531

Gene: C8B

Linked Data

• dbSNP Id: rs150022116
• gnomAD v3: 1-56956799-G-C
• gnomAD v4: 1-56956799-G-C
• MyVariant Identifiers: chr1:g.57422472G>C (hg19) ; chr1:g.56956799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956799G>C , CM000663.2:g.56956799G>C	GRCh38
NC_000001.10:g.57422472G>C , CM000663.1:g.57422472G>C	GRCh37
NC_000001.9:g.57195060G>C	NCBI36
NG_007285.1:g.14217C>G , LRG_31:g.14217C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000468990.2:c.*202C>G	ENSP00000512215.1:n.*202C>G
ENST00000494324.2:c.*466C>G	ENSP00000512216.1:n.*466C>G
ENST00000695842.1:c.361C>G	ENSP00000512214.1:p.Arg121Gly
ENST00000695843.1:c.*202C>G	ENSP00000512217.1:n.*202C>G
ENST00000696144.1:c.361C>G	ENSP00000512436.1:p.Arg121Gly
ENST00000696164.1:c.361C>G	ENSP00000512454.1:p.Arg121Gly
ENST00000696165.1:c.*202C>G	ENSP00000512455.1:n.*202C>G
ENST00000696166.1:c.*202C>G	ENSP00000512456.1:n.*202C>G
ENST00000371237.9:c.361C>G MANE Select	ENSP00000360281.4:p.Arg121Gly
ENST00000371237.8:c.361C>G	ENSP00000360281.4:p.Arg121Gly
ENST00000535057.5:c.175C>G	ENSP00000440113.1:p.Arg59Gly
ENST00000543257.5:c.205C>G	ENSP00000442548.1:p.Arg69Gly
NM_000066.3:c.361C>G	NP_000057.2:p.Arg121Gly
NM_001278543.1:c.205C>G	NP_001265472.1:p.Arg69Gly
NM_001278544.1:c.175C>G	NP_001265473.1:p.Arg59Gly
XM_017002235.1:c.361C>G	XP_016857724.1:p.Arg121Gly
XR_001737397.1:n.461C>G
NM_000066.4:c.361C>G MANE Select	NP_000057.3:p.Arg121Gly
NM_001278543.2:c.205C>G	NP_001265472.2:p.Arg69Gly
NM_001278544.2:c.175C>G	NP_001265473.2:p.Arg59Gly