Canonical Allele Identifier: CA2202658689

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243487A= , CM000678.2:g.3243487A=	GRCh38
NC_000016.9:g.3293487A= , CM000678.1:g.3293487A=	GRCh37
NC_000016.8:g.3233488A=	NCBI36
NG_007871.1:g.18141T= , LRG_190:g.18141T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1121T=
ENST00000219596.6:c.2000T= MANE Select	ENSP00000219596.1:p.Leu667=
ENST00000219596.5:c.2000T=	ENSP00000219596.1:p.Leu667=
ENST00000339854.8:c.1460T=	ENSP00000339639.4:p.Leu487=
ENST00000536379.5:c.1367T=	ENSP00000445079.1:p.Leu456=
ENST00000536980.5:c.*276T=	ENSP00000444178.1:n.*276T=
ENST00000537682.5:c.*276T=	ENSP00000438611.1:n.*276T=
ENST00000538326.5:c.*625T=	ENSP00000437486.1:n.*625T=
ENST00000539145.5:c.921T=	ENSP00000444471.1:n.921T=
ENST00000541159.5:c.1542T=	ENSP00000438711.1:n.1542T=
ENST00000542898.5:c.*276T=	ENSP00000444615.1:n.*276T=
ENST00000570511.5:c.1405T=	ENSP00000458312.1:n.1405T=
ENST00000572244.5:c.690T=	ENSP00000461186.1:n.690T=
ENST00000574583.5:c.772T=	ENSP00000460269.1:n.772T=
ENST00000576315.5:c.805T=	ENSP00000460551.1:n.805T=
ENST00000621655.1:c.1537T=	ENSP00000481436.1:n.1537T=
NM_000243.2:c.2000T= , LRG_190t1:c.2000T=	NP_000234.1:p.Leu667=
NM_001198536.1:c.*204T=	NP_001185465.1:n.*204T=
XM_017023236.2:c.1997T=	XP_016878725.1:p.Leu666=
NM_000243.3:c.2000T= MANE Select	NP_000234.1:p.Leu667=
NM_001198536.2:c.*204T=	NP_001185465.2:n.*204T=