Canonical Allele Identifier: CA9857736
Gene: MAFB HGNC NCBI

Linked Data

dbSNP Id: rs759116332
ExAC: 20:39316597 G / A
gnomAD v2: 20-39316597-G-A
gnomAD v4: 20-40687957-G-A
MyVariant Identifiers: chr20:g.39316597G>A (hg19) chr20:g.40687957G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.40687957G>A , CM000682.2:g.40687957G>A GRCh38
NC_000020.10:g.39316597G>A , CM000682.1:g.39316597G>A GRCh37
NC_000020.9:g.38750011G>A NCBI36
NG_023378.1:g.6280C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373313.3:c.894C>T MANE Select ENSP00000362410.2:p.Cys298=
ENST00000373313.2:c.894C>T ENSP00000362410.2:p.Cys298=
NM_005461.4:c.894C>T NP_005452.2:p.Cys298=
NM_005461.5:c.894C>T MANE Select NP_005452.2:p.Cys298=
Search 100 bp 5'
Search 100 bp 3'