Canonical Allele Identifier: CA9857755

Gene: MAFB

Linked Data

• ClinVar Variation Id: 784409
• ClinVar RCV Id: RCV000966088 ; RCV003916206
• dbSNP Id: rs141173032
• ExAC: 20:39316777 G / A
• gnomAD v2: 20-39316777-G-A
• gnomAD v3: 20-40688137-G-A
• gnomAD v4: 20-40688137-G-A
• MyVariant Identifiers: chr20:g.39316777G>A (hg19) ; chr20:g.40688137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.40688137G>A , CM000682.2:g.40688137G>A	GRCh38
NC_000020.10:g.39316777G>A , CM000682.1:g.39316777G>A	GRCh37
NC_000020.9:g.38750191G>A	NCBI36
NG_023378.1:g.6100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373313.3:c.714C>T MANE Select	ENSP00000362410.2:p.Arg238=
ENST00000373313.2:c.714C>T	ENSP00000362410.2:p.Arg238=
NM_005461.4:c.714C>T	NP_005452.2:p.Arg238=
NM_005461.5:c.714C>T MANE Select	NP_005452.2:p.Arg238=