Canonical Allele Identifier: CA210871

Gene: C8B

Linked Data

• ClinVar Variation Id: 35595
• ClinVar RCV Id: RCV000029240 ; RCV002513233
• dbSNP Id: rs372968576
• ExAC: 1:57422496 TG / T
• gnomAD v2: 1-57422496-TG-T
• gnomAD v3: 1-56956823-TG-T
• gnomAD v4: 1-56956823-TG-T
• MyVariant Identifiers: chr1:g.57422497del (hg19) ; chr1:g.56956824del (hg38)
• PubMed: PMID:7594510 ; PMID:19434484

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956825del , CM000663.2:g.56956825del	GRCh38
NC_000001.10:g.57422498del , CM000663.1:g.57422498del	GRCh37
NC_000001.9:g.57195086del	NCBI36
NG_007285.1:g.14192del , LRG_31:g.14192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000468990.2:c.*177del	ENSP00000512215.1:n.*177del
ENST00000494324.2:c.*441del	ENSP00000512216.1:n.*441del
ENST00000695842.1:c.336del	ENSP00000512214.1:p.Asn113ThrfsTer22
ENST00000695843.1:c.*177del	ENSP00000512217.1:n.*177del
ENST00000696144.1:c.336del	ENSP00000512436.1:p.Asn113ThrfsTer22
ENST00000696164.1:c.336del	ENSP00000512454.1:p.Asn113ThrfsTer22
ENST00000696165.1:c.*177del	ENSP00000512455.1:n.*177del
ENST00000696166.1:c.*177del	ENSP00000512456.1:n.*177del
ENST00000371237.9:c.336del MANE Select	ENSP00000360281.4:p.Asn113ThrfsTer22
ENST00000371237.8:c.336del	ENSP00000360281.4:p.Asn113ThrfsTer22
ENST00000535057.5:c.150del	ENSP00000440113.1:p.Asn51ThrfsTer22
ENST00000543257.5:c.180del	ENSP00000442548.1:p.Asn61ThrfsTer22
NM_000066.3:c.336del	NP_000057.2:p.Asn113ThrfsTer22
NM_001278543.1:c.180del	NP_001265472.1:p.Asn61ThrfsTer22
NM_001278544.1:c.150del	NP_001265473.1:p.Asn51ThrfsTer22
XM_017002235.1:c.336del	XP_016857724.1:p.Asn113ThrfsTer22
XR_001737397.1:n.436del
NM_000066.4:c.336del MANE Select	NP_000057.3:p.Asn113ThrfsTer22
NM_001278543.2:c.180del	NP_001265472.2:p.Asn61ThrfsTer22
NM_001278544.2:c.150del	NP_001265473.2:p.Asn51ThrfsTer22