Canonical Allele Identifier: CA522973861

Gene: C8B

Linked Data

• dbSNP Id: rs1438653340
• gnomAD v2: 1-57422391-A-C
• gnomAD v4: 1-56956718-A-C
• MyVariant Identifiers: chr1:g.57422391A>C (hg19) ; chr1:g.56956718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956718A>C , CM000663.2:g.56956718A>C	GRCh38
NC_000001.10:g.57422391A>C , CM000663.1:g.57422391A>C	GRCh37
NC_000001.9:g.57194979A>C	NCBI36
NG_007285.1:g.14298T>G , LRG_31:g.14298T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000468990.2:c.*232+51T>G	ENSP00000512215.1:n.*232+51T>G
ENST00000494324.2:c.*496+51T>G	ENSP00000512216.1:n.*496+51T>G
ENST00000695842.1:c.391+51T>G	ENSP00000512214.1:n.391+51T>G
ENST00000695843.1:c.*232+51T>G	ENSP00000512217.1:n.*232+51T>G
ENST00000696144.1:c.391+51T>G	ENSP00000512436.1:n.391+51T>G
ENST00000696164.1:c.391+51T>G	ENSP00000512454.1:n.391+51T>G
ENST00000696165.1:c.*232+51T>G	ENSP00000512455.1:n.*232+51T>G
ENST00000696166.1:c.*232+51T>G	ENSP00000512456.1:n.*232+51T>G
ENST00000371237.9:c.391+51T>G MANE Select	ENSP00000360281.4:n.391+51T>G
ENST00000371237.8:c.391+51T>G	ENSP00000360281.4:n.391+51T>G
ENST00000535057.5:c.205+51T>G	ENSP00000440113.1:n.205+51T>G
ENST00000543257.5:c.235+51T>G	ENSP00000442548.1:n.235+51T>G
NM_000066.3:c.391+51T>G	NP_000057.2:n.391+51T>G
NM_001278543.1:c.235+51T>G	NP_001265472.1:n.235+51T>G
NM_001278544.1:c.205+51T>G	NP_001265473.1:n.205+51T>G
XM_017002235.1:c.391+51T>G	XP_016857724.1:n.391+51T>G
XR_001737397.1:n.491+51T>G
NM_000066.4:c.391+51T>G MANE Select	NP_000057.3:n.391+51T>G
NM_001278543.2:c.235+51T>G	NP_001265472.2:n.235+51T>G
NM_001278544.2:c.205+51T>G	NP_001265473.2:n.205+51T>G