Canonical Allele Identifier: CA10577523
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 234354
ClinVar RCV Id: RCV000223609
dbSNP Id: rs876660992

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254627_3254642dup , CM000678.2:g.3254627_3254642dup GRCh38
NC_000016.9:g.3304627_3304642dup , CM000678.1:g.3304627_3304642dup GRCh37
NC_000016.8:g.3244628_3244643dup NCBI36
NG_007871.1:g.6987_7002dup , LRG_190:g.6987_7002dup

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.427_442dup , LRG_190t1:c.427_442dup NP_000234.1:p.Glu148AlafsTer?
NM_001198536.1:c.277+1670_277+1685dup NP_001185465.1:p.=
XM_017023236.2:c.427_442dup XP_016878725.1:p.Glu148AlafsTer?
XR_001751903.1:n.616_631dup
NM_000243.3:c.427_442dup MANE Select NP_000234.1:p.Glu148AlafsTer?
NM_001198536.2:c.277+1670_277+1685dup NP_001185465.2:p.=
ENST00000219596.5:c.427_442dup ENSP00000219596.1:p.Glu148AlafsTer?
ENST00000339854.8:c.277+1670_277+1685dup ENSP00000339639.4:p.=
ENST00000536379.5:n.277+1670_277+1685dup ENSP00000445079.1:p.=
ENST00000536980.5:c.277+1670_277+1685dup ENSP00000444178.1:p.=
ENST00000537682.5:c.427_442dup ENSP00000438611.1:p.Glu148AlafsTer?
ENST00000538326.5:c.427_442dup ENSP00000437486.1:p.Glu148AlafsTer?
ENST00000539145.5:n.277+1670_277+1685dup ENSP00000444471.1:p.=
ENST00000541159.5:n.277+1670_277+1685dup ENSP00000438711.1:p.=
ENST00000542898.5:c.427_442dup ENSP00000444615.1:p.Glu148AlafsTer?
ENST00000570511.5:n.427_442dup ENSP00000458312.1:p.Glu148AlafsTer?
ENST00000572244.5:n.277+1670_277+1685dup ENSP00000461186.1:p.=
ENST00000574583.5:n.277+1670_277+1685dup ENSP00000460269.1:p.=
ENST00000576315.5:n.277+1670_277+1685dup ENSP00000460551.1:p.=
ENST00000621655.1:n.277+1670_277+1685dup ENSP00000481436.1:p.=