Canonical Allele Identifier: CA2202658585

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243296A= , CM000678.2:g.3243296A=	GRCh38
NC_000016.9:g.3293296A= , CM000678.1:g.3293296A=	GRCh37
NC_000016.8:g.3233297A=	NCBI36
NG_007871.1:g.18332T= , LRG_190:g.18332T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1312T=
ENST00000219596.6:c.2191T= MANE Select	ENSP00000219596.1:p.Phe731=
ENST00000219596.5:c.2191T=	ENSP00000219596.1:p.Phe731=
ENST00000339854.8:c.1651T=	ENSP00000339639.4:p.Phe551=
ENST00000536379.5:c.1558T=	ENSP00000445079.1:p.Phe520=
ENST00000536980.5:c.*467T=	ENSP00000444178.1:n.*467T=
ENST00000537682.5:c.*467T=	ENSP00000438611.1:n.*467T=
ENST00000538326.5:c.*816T=	ENSP00000437486.1:n.*816T=
ENST00000539145.5:c.1112T=	ENSP00000444471.1:n.1112T=
ENST00000541159.5:c.1733T=	ENSP00000438711.1:n.1733T=
ENST00000542898.5:c.*467T=	ENSP00000444615.1:n.*467T=
ENST00000570511.5:c.1596T=	ENSP00000458312.1:n.1596T=
ENST00000572244.5:c.881T=	ENSP00000461186.1:n.881T=
ENST00000574583.5:c.963T=	ENSP00000460269.1:n.963T=
ENST00000576315.5:c.996T=	ENSP00000460551.1:n.996T=
ENST00000621655.1:c.1728T=	ENSP00000481436.1:n.1728T=
NM_000243.2:c.2191T= , LRG_190t1:c.2191T=	NP_000234.1:p.Phe731=
NM_001198536.1:c.*395T=	NP_001185465.1:n.*395T=
XM_017023236.2:c.2188T=	XP_016878725.1:p.Phe730=
NM_000243.3:c.2191T= MANE Select	NP_000234.1:p.Phe731=
NM_001198536.2:c.*395T=	NP_001185465.2:n.*395T=