Canonical Allele Identifier: CA10575959

Gene: MAFB

Linked Data

• ClinVar Variation Id: 224628
• ClinVar RCV Id: RCV000235061 ; RCV000240679
• dbSNP Id: rs879255275
• MyVariant Identifiers: chr20:g.39316688del (hg19) ; chr20:g.40688048del (hg38)
• PubMed: PMID:27181683

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.40688049del , CM000682.2:g.40688049del	GRCh38
NC_000020.10:g.39316689del , CM000682.1:g.39316689del	GRCh37
NC_000020.9:g.38750103del	NCBI36
NG_023378.1:g.6189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373313.3:c.803del MANE Select	ENSP00000362410.2:p.Asn268MetfsTer?
ENST00000373313.2:c.803del	ENSP00000362410.2:p.Asn268MetfsTer?
NM_005461.4:c.803del	NP_005452.2:p.Asn268MetfsTer?
NM_005461.5:c.803del MANE Select	NP_005452.2:p.Asn268MetfsTer?