Canonical Allele Identifier: CA2202658575

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243276T= , CM000678.2:g.3243276T=	GRCh38
NC_000016.9:g.3293276T= , CM000678.1:g.3293276T=	GRCh37
NC_000016.8:g.3233277T=	NCBI36
NG_007871.1:g.18352A= , LRG_190:g.18352A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1332A=
ENST00000219596.6:c.2211A= MANE Select	ENSP00000219596.1:p.Arg737=
ENST00000219596.5:c.2211A=	ENSP00000219596.1:p.Arg737=
ENST00000339854.8:c.1671A=	ENSP00000339639.4:p.Arg557=
ENST00000536379.5:c.1578A=	ENSP00000445079.1:p.Arg526=
ENST00000536980.5:c.*487A=	ENSP00000444178.1:n.*487A=
ENST00000537682.5:c.*487A=	ENSP00000438611.1:n.*487A=
ENST00000538326.5:c.*836A=	ENSP00000437486.1:n.*836A=
ENST00000539145.5:c.1132A=	ENSP00000444471.1:n.1132A=
ENST00000541159.5:c.1753A=	ENSP00000438711.1:n.1753A=
ENST00000542898.5:c.*487A=	ENSP00000444615.1:n.*487A=
ENST00000570511.5:c.1616A=	ENSP00000458312.1:n.1616A=
ENST00000572244.5:c.901A=	ENSP00000461186.1:n.901A=
ENST00000574583.5:c.983A=	ENSP00000460269.1:n.983A=
ENST00000576315.5:c.1016A=	ENSP00000460551.1:n.1016A=
ENST00000621655.1:c.1748A=	ENSP00000481436.1:n.1748A=
NM_000243.2:c.2211A= , LRG_190t1:c.2211A=	NP_000234.1:p.Arg737=
NM_001198536.1:c.*415A=	NP_001185465.1:n.*415A=
XM_017023236.2:c.2208A=	XP_016878725.1:p.Arg736=
NM_000243.3:c.2211A= MANE Select	NP_000234.1:p.Arg737=
NM_001198536.2:c.*415A=	NP_001185465.2:n.*415A=