Canonical Allele Identifier: CA891862990
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 591331
dbSNP Id: rs1567237666

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254653_3254654delinsAC , CM000678.2:g.3254653_3254654delinsAC GRCh38
NC_000016.9:g.3304653_3304654delinsAC , CM000678.1:g.3304653_3304654delinsAC GRCh37
NC_000016.8:g.3244654_3244655delinsAC NCBI36
NG_007871.1:g.6974_6975delinsGT , LRG_190:g.6974_6975delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.414_415delinsGT MANE Select ENSP00000219596.1:p.Ala139Ser
ENST00000219596.5:c.414_415delinsGT ENSP00000219596.1:p.Ala139Ser
ENST00000339854.8:c.277+1657_277+1658delinsGT ENSP00000339639.4:n.277+1657_277+1658delinsGT
ENST00000536379.5:c.277+1657_277+1658delinsGT ENSP00000445079.1:n.277+1657_277+1658delinsGT
ENST00000536980.5:c.277+1657_277+1658delinsGT ENSP00000444178.1:n.277+1657_277+1658delinsGT
ENST00000537682.5:c.414_415delinsGT ENSP00000438611.1:p.Ala139Ser
ENST00000538326.5:c.414_415delinsGT ENSP00000437486.1:p.Ala139Ser
ENST00000539145.5:c.277+1657_277+1658delinsGT ENSP00000444471.1:n.277+1657_277+1658delinsGT
ENST00000541159.5:c.277+1657_277+1658delinsGT ENSP00000438711.1:n.277+1657_277+1658delinsGT
ENST00000542898.5:c.414_415delinsGT ENSP00000444615.1:p.Ala139Ser
ENST00000570511.5:c.414_415delinsGT ENSP00000458312.1:p.Ala139Ser
ENST00000572244.5:c.277+1657_277+1658delinsGT ENSP00000461186.1:n.277+1657_277+1658delinsGT
ENST00000574583.5:c.277+1657_277+1658delinsGT ENSP00000460269.1:n.277+1657_277+1658delinsGT
ENST00000576315.5:c.277+1657_277+1658delinsGT ENSP00000460551.1:n.277+1657_277+1658delinsGT
ENST00000621655.1:c.277+1657_277+1658delinsGT ENSP00000481436.1:n.277+1657_277+1658delinsGT
NM_000243.2:c.414_415delinsGT , LRG_190t1:c.414_415delinsGT NP_000234.1:p.Ala139Ser
NM_001198536.1:c.277+1657_277+1658delinsGT NP_001185465.1:n.277+1657_277+1658delinsGT
XM_017023236.2:c.414_415delinsGT XP_016878725.1:p.Ala139Ser
XR_001751903.1:n.603_604delinsGT
NM_000243.3:c.414_415delinsGT MANE Select NP_000234.1:p.Ala139Ser
NM_001198536.2:c.277+1657_277+1658delinsGT NP_001185465.2:n.277+1657_277+1658delinsGT