Canonical Allele Identifier: CA7860557
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 319120
dbSNP Id: rs11466015
gnomAD v2: 16-3306602-G-C
gnomAD v3: 16-3256602-G-C
gnomAD v4: 16-3256602-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3256602G>C , CM000678.2:g.3256602G>C GRCh38
NC_000016.9:g.3306602G>C , CM000678.1:g.3306602G>C GRCh37
NC_000016.8:g.3246603G>C NCBI36
NG_007871.1:g.5026C>G , LRG_190:g.5026C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.-15C>G MANE Select ENSP00000219596.1:n.-15C>G
ENST00000219596.5:c.-15C>G ENSP00000219596.1:n.-15C>G
ENST00000339854.8:c.-15C>G ENSP00000339639.4:n.-15C>G
ENST00000536980.5:c.-15C>G ENSP00000444178.1:n.-15C>G
ENST00000537682.5:c.-15C>G ENSP00000438611.1:n.-15C>G
ENST00000538326.5:c.-15C>G ENSP00000437486.1:n.-15C>G
ENST00000542898.5:c.-15C>G ENSP00000444615.1:n.-15C>G
NM_000243.2:c.-15C>G , LRG_190t1:c.-15C>G NP_000234.1:n.-15C>G
NM_001198536.1:c.-15C>G NP_001185465.1:n.-15C>G
XM_017023236.2:c.-15C>G XP_016878725.1:n.-15C>G
XR_001751903.1:n.175C>G
NM_000243.3:c.-15C>G MANE Select NP_000234.1:n.-15C>G
NM_001198536.2:c.-15C>G NP_001185465.2:n.-15C>G