Canonical Allele Identifier: CA10643563
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 319104
ClinVar RCV Id: RCV000297771
dbSNP Id: rs562541179
gnomAD v3: 16-3242861-C-G
gnomAD v4: 16-3242861-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242861C>G , CM000678.2:g.3242861C>G GRCh38
NC_000016.9:g.3292861C>G , CM000678.1:g.3292861C>G GRCh37
NC_000016.8:g.3232862C>G NCBI36
NG_007871.1:g.18767G>C , LRG_190:g.18767G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1747G>C
ENST00000219596.6:c.*280G>C MANE Select ENSP00000219596.1:n.*280G>C
ENST00000219596.5:c.*280G>C ENSP00000219596.1:n.*280G>C
ENST00000339854.8:c.*280G>C ENSP00000339639.4:n.*280G>C
ENST00000536980.5:c.*902G>C ENSP00000444178.1:n.*902G>C
ENST00000537682.5:c.*902G>C ENSP00000438611.1:n.*902G>C
ENST00000538326.5:c.*1251G>C ENSP00000437486.1:n.*1251G>C
ENST00000542898.5:c.*902G>C ENSP00000444615.1:n.*902G>C
NM_000243.2:c.*280G>C , LRG_190t1:c.*280G>C NP_000234.1:n.*280G>C
NM_001198536.1:c.*830G>C NP_001185465.1:n.*830G>C
NM_000243.3:c.*280G>C MANE Select NP_000234.1:n.*280G>C
NM_001198536.2:c.*830G>C NP_001185465.2:n.*830G>C