Canonical Allele Identifier: CA2202658571

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243271T= , CM000678.2:g.3243271T=	GRCh38
NC_000016.9:g.3293271T= , CM000678.1:g.3293271T=	GRCh37
NC_000016.8:g.3233272T=	NCBI36
NG_007871.1:g.18357A= , LRG_190:g.18357A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1337A=
ENST00000219596.6:c.2216A= MANE Select	ENSP00000219596.1:p.His739=
ENST00000219596.5:c.2216A=	ENSP00000219596.1:p.His739=
ENST00000339854.8:c.1676A=	ENSP00000339639.4:p.His559=
ENST00000536379.5:c.1583A=	ENSP00000445079.1:p.His528=
ENST00000536980.5:c.*492A=	ENSP00000444178.1:n.*492A=
ENST00000537682.5:c.*492A=	ENSP00000438611.1:n.*492A=
ENST00000538326.5:c.*841A=	ENSP00000437486.1:n.*841A=
ENST00000539145.5:c.1137A=	ENSP00000444471.1:n.1137A=
ENST00000541159.5:c.1758A=	ENSP00000438711.1:n.1758A=
ENST00000542898.5:c.*492A=	ENSP00000444615.1:n.*492A=
ENST00000570511.5:c.1621A=	ENSP00000458312.1:n.1621A=
ENST00000572244.5:c.906A=	ENSP00000461186.1:n.906A=
ENST00000574583.5:c.988A=	ENSP00000460269.1:n.988A=
ENST00000576315.5:c.1021A=	ENSP00000460551.1:n.1021A=
ENST00000621655.1:c.1753A=	ENSP00000481436.1:n.1753A=
NM_000243.2:c.2216A= , LRG_190t1:c.2216A=	NP_000234.1:p.His739=
NM_001198536.1:c.*420A=	NP_001185465.1:n.*420A=
XM_017023236.2:c.2213A=	XP_016878725.1:p.His738=
NM_000243.3:c.2216A= MANE Select	NP_000234.1:p.His739=
NM_001198536.2:c.*420A=	NP_001185465.2:n.*420A=