Canonical Allele Identifier: CA9857743

Gene: MAFB

Linked Data

• ClinVar Variation Id: 1913449
• ClinVar RCV Id: RCV002593876
• dbSNP Id: rs753635691
• ExAC: 20:39316626 G / A
• gnomAD v2: 20-39316626-G-A
• gnomAD v4: 20-40687986-G-A
• MyVariant Identifiers: chr20:g.39316626G>A (hg19) ; chr20:g.40687986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.40687986G>A , CM000682.2:g.40687986G>A	GRCh38
NC_000020.10:g.39316626G>A , CM000682.1:g.39316626G>A	GRCh37
NC_000020.9:g.38750040G>A	NCBI36
NG_023378.1:g.6251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373313.3:c.865C>T MANE Select	ENSP00000362410.2:p.Arg289Cys
ENST00000373313.2:c.865C>T	ENSP00000362410.2:p.Arg289Cys
NM_005461.4:c.865C>T	NP_005452.2:p.Arg289Cys
NM_005461.5:c.865C>T MANE Select	NP_005452.2:p.Arg289Cys