Canonical Allele Identifier: CA408941831

Gene: MAFB

Linked Data

• ClinVar Variation Id: 593578
• ClinVar RCV Id: RCV000728664 ; RCV002493309
• dbSNP Id: rs1290466873
• gnomAD v2: 20-39317366-G-A
• gnomAD v3: 20-40688726-G-A
• gnomAD v4: 20-40688726-G-A
• COSMIC: COSM4699848
• MyVariant Identifiers: chr20:g.39317366G>A (hg19) ; chr20:g.40688726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.40688726G>A , CM000682.2:g.40688726G>A	GRCh38
NC_000020.10:g.39317366G>A , CM000682.1:g.39317366G>A	GRCh37
NC_000020.9:g.38750780G>A	NCBI36
NG_023378.1:g.5511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373313.3:c.125C>T MANE Select	ENSP00000362410.2:p.Pro42Leu
ENST00000373313.2:c.125C>T	ENSP00000362410.2:p.Pro42Leu
NM_005461.4:c.125C>T	NP_005452.2:p.Pro42Leu
NM_005461.5:c.125C>T MANE Select	NP_005452.2:p.Pro42Leu