Canonical Allele Identifier: CA9857848

Gene: MAFB

Linked Data

• ClinVar Variation Id: 742916
• ClinVar RCV Id: RCV000919230 ; RCV003895586
• dbSNP Id: rs372188762
• ExAC: 20:39317419 G / A
• gnomAD v2: 20-39317419-G-A
• gnomAD v3: 20-40688779-G-A
• gnomAD v4: 20-40688779-G-A
• MyVariant Identifiers: chr20:g.39317419G>A (hg19) ; chr20:g.40688779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.40688779G>A , CM000682.2:g.40688779G>A	GRCh38
NC_000020.10:g.39317419G>A , CM000682.1:g.39317419G>A	GRCh37
NC_000020.9:g.38750833G>A	NCBI36
NG_023378.1:g.5458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373313.3:c.72C>T MANE Select	ENSP00000362410.2:p.Phe24=
ENST00000373313.2:c.72C>T	ENSP00000362410.2:p.Phe24=
NM_005461.4:c.72C>T	NP_005452.2:p.Phe24=
NM_005461.5:c.72C>T MANE Select	NP_005452.2:p.Phe24=