Canonical Allele Identifier: CA2202658624

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243368T= , CM000678.2:g.3243368T=	GRCh38
NC_000016.9:g.3293368T= , CM000678.1:g.3293368T=	GRCh37
NC_000016.8:g.3233369T=	NCBI36
NG_007871.1:g.18260A= , LRG_190:g.18260A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1240A=
ENST00000219596.6:c.2119A= MANE Select	ENSP00000219596.1:p.Thr707=
ENST00000219596.5:c.2119A=	ENSP00000219596.1:p.Thr707=
ENST00000339854.8:c.1579A=	ENSP00000339639.4:p.Thr527=
ENST00000536379.5:c.1486A=	ENSP00000445079.1:p.Thr496=
ENST00000536980.5:c.*395A=	ENSP00000444178.1:n.*395A=
ENST00000537682.5:c.*395A=	ENSP00000438611.1:n.*395A=
ENST00000538326.5:c.*744A=	ENSP00000437486.1:n.*744A=
ENST00000539145.5:c.1040A=	ENSP00000444471.1:n.1040A=
ENST00000541159.5:c.1661A=	ENSP00000438711.1:n.1661A=
ENST00000542898.5:c.*395A=	ENSP00000444615.1:n.*395A=
ENST00000570511.5:c.1524A=	ENSP00000458312.1:n.1524A=
ENST00000572244.5:c.809A=	ENSP00000461186.1:n.809A=
ENST00000574583.5:c.891A=	ENSP00000460269.1:n.891A=
ENST00000576315.5:c.924A=	ENSP00000460551.1:n.924A=
ENST00000621655.1:c.1656A=	ENSP00000481436.1:n.1656A=
NM_000243.2:c.2119A= , LRG_190t1:c.2119A=	NP_000234.1:p.Thr707=
NM_001198536.1:c.*323A=	NP_001185465.1:n.*323A=
XM_017023236.2:c.2116A=	XP_016878725.1:p.Thr706=
NM_000243.3:c.2119A= MANE Select	NP_000234.1:p.Thr707=
NM_001198536.2:c.*323A=	NP_001185465.2:n.*323A=