Canonical Allele Identifier: CA417976954

Gene: C8B

Linked Data

• dbSNP Id: rs140813121
• gnomAD v2: 1-57415272-G-T
• MyVariant Identifiers: chr1:g.57415272G>T (hg19) ; chr1:g.56949599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56949599G>T , CM000663.2:g.56949599G>T	GRCh38
NC_000001.10:g.57415272G>T , CM000663.1:g.57415272G>T	GRCh37
NC_000001.9:g.57187860G>T	NCBI36
NG_007285.1:g.21417C>A , LRG_31:g.21417C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000468990.2:c.*661C>A	ENSP00000512215.1:n.*661C>A
ENST00000494324.2:c.*925C>A	ENSP00000512216.1:n.*925C>A
ENST00000695842.1:c.820C>A	ENSP00000512214.1:p.Arg274=
ENST00000695843.1:c.*661C>A	ENSP00000512217.1:n.*661C>A
ENST00000696144.1:c.820C>A	ENSP00000512436.1:p.Arg274=
ENST00000696164.1:c.820C>A	ENSP00000512454.1:p.Arg274=
ENST00000696165.1:c.*661C>A	ENSP00000512455.1:n.*661C>A
ENST00000696166.1:c.*661C>A	ENSP00000512456.1:n.*661C>A
ENST00000371237.9:c.820C>A MANE Select	ENSP00000360281.4:p.Arg274=
ENST00000371237.8:c.820C>A	ENSP00000360281.4:p.Arg274=
ENST00000535057.5:c.634C>A	ENSP00000440113.1:p.Arg212=
ENST00000543257.5:c.664C>A	ENSP00000442548.1:p.Arg222=
NM_000066.3:c.820C>A	NP_000057.2:p.Arg274=
NM_001278543.1:c.664C>A	NP_001265472.1:p.Arg222=
NM_001278544.1:c.634C>A	NP_001265473.1:p.Arg212=
XM_017002235.1:c.820C>A	XP_016857724.1:p.Arg274=
XR_001737397.1:n.920C>A
NM_000066.4:c.820C>A MANE Select	NP_000057.3:p.Arg274=
NM_001278543.2:c.664C>A	NP_001265472.2:p.Arg222=
NM_001278544.2:c.634C>A	NP_001265473.2:p.Arg212=