Canonical Allele Identifier: CA10643845
Gene: MAFB HGNC NCBI

Linked Data

ClinVar Variation Id: 338390
ClinVar RCV Id: RCV000316762
dbSNP Id: rs542788257
gnomAD v2: 20-39315309-C-T
gnomAD v3: 20-40686669-C-T
gnomAD v4: 20-40686669-C-T
MyVariant Identifiers: chr20:g.39315309C>T (hg19) chr20:g.40686669C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.40686669C>T , CM000682.2:g.40686669C>T GRCh38
NC_000020.10:g.39315309C>T , CM000682.1:g.39315309C>T GRCh37
NC_000020.9:g.38748723C>T NCBI36
NG_023378.1:g.7568G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373313.3:c.*1210G>A MANE Select ENSP00000362410.2:n.*1210G>A
ENST00000373313.2:c.*1210G>A ENSP00000362410.2:n.*1210G>A
NM_005461.4:c.*1210G>A NP_005452.2:n.*1210G>A
NM_005461.5:c.*1210G>A MANE Select NP_005452.2:n.*1210G>A
Search 100 bp 5'
Search 100 bp 3'