Canonical Allele Identifier: CA280388
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 97439
dbSNP Id: rs104895140
gnomAD v2: 16-3299032-T-C
gnomAD v3: 16-3249032-T-C
gnomAD v4: 16-3249032-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3249032T>C , CM000678.2:g.3249032T>C GRCh38
NC_000016.9:g.3299032T>C , CM000678.1:g.3299032T>C GRCh37
NC_000016.8:g.3239033T>C NCBI36
NG_007871.1:g.12596A>G , LRG_190:g.12596A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.1261-28A>G MANE Select ENSP00000219596.1:n.1261-28A>G
ENST00000219596.5:c.1261-28A>G ENSP00000219596.1:n.1261-28A>G
ENST00000339854.8:c.721-28A>G ENSP00000339639.4:n.721-28A>G
ENST00000536379.5:c.628-28A>G ENSP00000445079.1:n.628-28A>G
ENST00000536980.5:c.628-28A>G ENSP00000444178.1:n.628-28A>G
ENST00000537682.5:c.1261-28A>G ENSP00000438611.1:n.1261-28A>G
ENST00000538326.5:c.1261-28A>G ENSP00000437486.1:n.1261-28A>G
ENST00000539145.5:c.278-1786A>G ENSP00000444471.1:n.278-1786A>G
ENST00000541159.5:c.628-28A>G ENSP00000438711.1:n.628-28A>G
ENST00000542898.5:c.1354-28A>G ENSP00000444615.1:n.1354-28A>G
ENST00000570511.5:c.911-1786A>G ENSP00000458312.1:n.911-1786A>G
ENST00000572244.5:c.278-2485A>G ENSP00000461186.1:n.278-2485A>G
ENST00000574583.5:c.278-1786A>G ENSP00000460269.1:n.278-1786A>G
ENST00000576315.5:c.278-1786A>G ENSP00000460551.1:n.278-1786A>G
ENST00000621655.1:c.628-28A>G ENSP00000481436.1:n.628-28A>G
NM_000243.2:c.1261-28A>G , LRG_190t1:c.1261-28A>G NP_000234.1:n.1261-28A>G
NM_001198536.1:c.628-28A>G NP_001185465.1:n.628-28A>G
XM_017023236.2:c.1261-31A>G XP_016878725.1:n.1261-31A>G
XR_001751903.1:n.1450-28A>G
NM_000243.3:c.1261-28A>G MANE Select NP_000234.1:n.1261-28A>G
NM_001198536.2:c.628-28A>G NP_001185465.2:n.628-28A>G