Canonical Allele Identifier: CA2202658713

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243543G= , CM000678.2:g.3243543G=	GRCh38
NC_000016.9:g.3293543G= , CM000678.1:g.3293543G=	GRCh37
NC_000016.8:g.3233544G=	NCBI36
NG_007871.1:g.18085C= , LRG_190:g.18085C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1065C=
ENST00000219596.6:c.1944C= MANE Select	ENSP00000219596.1:p.Phe648=
ENST00000219596.5:c.1944C=	ENSP00000219596.1:p.Phe648=
ENST00000339854.8:c.1404C=	ENSP00000339639.4:p.Phe468=
ENST00000536379.5:c.1311C=	ENSP00000445079.1:p.Phe437=
ENST00000536980.5:c.*220C=	ENSP00000444178.1:n.*220C=
ENST00000537682.5:c.*220C=	ENSP00000438611.1:n.*220C=
ENST00000538326.5:c.*569C=	ENSP00000437486.1:n.*569C=
ENST00000539145.5:c.865C=	ENSP00000444471.1:n.865C=
ENST00000541159.5:c.1486C=	ENSP00000438711.1:n.1486C=
ENST00000542898.5:c.*220C=	ENSP00000444615.1:n.*220C=
ENST00000570511.5:c.1349C=	ENSP00000458312.1:n.1349C=
ENST00000572244.5:c.634C=	ENSP00000461186.1:n.634C=
ENST00000574583.5:c.716C=	ENSP00000460269.1:n.716C=
ENST00000576315.5:c.749C=	ENSP00000460551.1:n.749C=
ENST00000621655.1:c.1481C=	ENSP00000481436.1:n.1481C=
NM_000243.2:c.1944C= , LRG_190t1:c.1944C=	NP_000234.1:p.Phe648=
NM_001198536.1:c.*148C=	NP_001185465.1:n.*148C=
XM_017023236.2:c.1941C=	XP_016878725.1:p.Phe647=
NM_000243.3:c.1944C= MANE Select	NP_000234.1:p.Phe648=
NM_001198536.2:c.*148C=	NP_001185465.2:n.*148C=