Canonical Allele Identifier: CA2202658660

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243423G= , CM000678.2:g.3243423G=	GRCh38
NC_000016.9:g.3293423G= , CM000678.1:g.3293423G=	GRCh37
NC_000016.8:g.3233424G=	NCBI36
NG_007871.1:g.18205C= , LRG_190:g.18205C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2064C= MANE Select	NP_000234.1:p.Tyr688=
ENST00000219596.6:c.2064C= MANE Select	ENSP00000219596.1:p.Tyr688=
NM_000243.2:c.2064C= , LRG_190t1:c.2064C=	NP_000234.1:p.Tyr688=
NM_001198536.1:c.*268C=	NP_001185465.1:n.*268C=
NM_001198536.2:c.*268C=	NP_001185465.2:n.*268C=
ENST00000219596.5:c.2064C=	ENSP00000219596.1:p.Tyr688=
ENST00000339854.8:c.1524C=	ENSP00000339639.4:p.Tyr508=
ENST00000536379.5:c.1431C=	ENSP00000445079.1:p.Tyr477=
ENST00000536980.5:c.*340C=	ENSP00000444178.1:n.*340C=
ENST00000537682.5:c.*340C=	ENSP00000438611.1:n.*340C=
ENST00000538326.5:c.*689C=	ENSP00000437486.1:n.*689C=
ENST00000539145.5:c.985C=	ENSP00000444471.1:n.985C=
ENST00000541159.5:c.1606C=	ENSP00000438711.1:n.1606C=
ENST00000542898.5:c.*340C=	ENSP00000444615.1:n.*340C=
ENST00000570511.5:c.1469C=	ENSP00000458312.1:n.1469C=
ENST00000572244.5:c.754C=	ENSP00000461186.1:n.754C=
ENST00000574583.5:c.836C=	ENSP00000460269.1:n.836C=
ENST00000576315.5:c.869C=	ENSP00000460551.1:n.869C=
ENST00000621655.1:c.1601C=	ENSP00000481436.1:n.1601C=
ENST00000697124.1:n.1185C=
XM_017023236.2:c.2061C=	XP_016878725.1:p.Tyr687=