Canonical Allele Identifier: CA9857850

Gene: MAFB

Linked Data

• ClinVar Variation Id: 2071617
• ClinVar RCV Id: RCV002975721
• dbSNP Id: rs777309003
• ExAC: 20:39317436 C / G
• gnomAD v2: 20-39317436-C-G
• gnomAD v3: 20-40688796-C-G
• gnomAD v4: 20-40688796-C-G
• MyVariant Identifiers: chr20:g.39317436C>G (hg19) ; chr20:g.40688796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.40688796C>G , CM000682.2:g.40688796C>G	GRCh38
NC_000020.10:g.39317436C>G , CM000682.1:g.39317436C>G	GRCh37
NC_000020.9:g.38750850C>G	NCBI36
NG_023378.1:g.5441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373313.3:c.55G>C MANE Select	ENSP00000362410.2:p.Glu19Gln
ENST00000373313.2:c.55G>C	ENSP00000362410.2:p.Glu19Gln
NM_005461.4:c.55G>C	NP_005452.2:p.Glu19Gln
NM_005461.5:c.55G>C MANE Select	NP_005452.2:p.Glu19Gln