Canonical Allele Identifier: CA2202659228

Gene: MEFV

Linked Data

• dbSNP Id: rs1958909976
• gnomAD v3: 16-3244506-C-CT
• gnomAD v4: 16-3244506-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244507dup , CM000678.2:g.3244507dup	GRCh38
NC_000016.9:g.3294507dup , CM000678.1:g.3294507dup	GRCh37
NC_000016.8:g.3234508dup	NCBI36
NG_007871.1:g.17121dup , LRG_190:g.17121dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.813dup
ENST00000219596.6:c.1692dup MANE Select	ENSP00000219596.1:p.Glu565ArgfsTer?
ENST00000219596.5:c.1692dup	ENSP00000219596.1:p.Glu565ArgfsTer?
ENST00000339854.8:c.1152dup	ENSP00000339639.4:p.Glu385ArgfsTer?
ENST00000536379.5:c.1059dup	ENSP00000445079.1:p.Glu354ArgfsTer?
ENST00000536980.5:c.1059dup	ENSP00000444178.1:p.Glu354ArgfsTer24
ENST00000537682.5:c.1692dup	ENSP00000438611.1:p.Glu565ArgfsTer24
ENST00000538326.5:c.*317dup	ENSP00000437486.1:n.*317dup
ENST00000539145.5:c.613dup	ENSP00000444471.1:n.613dup
ENST00000541159.5:c.1059dup	ENSP00000438711.1:p.Glu354ArgfsTer23
ENST00000542898.5:c.1785dup	ENSP00000444615.1:p.Glu596ArgfsTer24
ENST00000570511.5:c.1165-615dup	ENSP00000458312.1:n.1165-615dup
ENST00000572244.5:c.382dup	ENSP00000461186.1:n.382dup
ENST00000574583.5:c.532-615dup	ENSP00000460269.1:n.532-615dup
ENST00000576315.5:c.532-221dup	ENSP00000460551.1:n.532-221dup
ENST00000621655.1:c.1059dup	ENSP00000481436.1:p.Glu354ArgfsTer23
NM_000243.2:c.1692dup , LRG_190t1:c.1692dup	NP_000234.1:p.Glu565ArgfsTer?
NM_001198536.1:c.1059dup	NP_001185465.1:p.Glu354ArgfsTer23
XM_017023236.2:c.1689dup	XP_016878725.1:p.Glu564ArgfsTer?
XR_001751903.1:n.1881dup
NM_000243.3:c.1692dup MANE Select	NP_000234.1:p.Glu565ArgfsTer?
NM_001198536.2:c.1059dup	NP_001185465.2:p.Glu354ArgfsTer23