Canonical Allele Identifier: CA2202658557

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243251A= , CM000678.2:g.3243251A=	GRCh38
NC_000016.9:g.3293251A= , CM000678.1:g.3293251A=	GRCh37
NC_000016.8:g.3233252A=	NCBI36
NG_007871.1:g.18377T= , LRG_190:g.18377T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1357T=
ENST00000219596.6:c.2236T= MANE Select	ENSP00000219596.1:p.Cys746=
ENST00000219596.5:c.2236T=	ENSP00000219596.1:p.Cys746=
ENST00000339854.8:c.1696T=	ENSP00000339639.4:p.Cys566=
ENST00000536379.5:c.1603T=	ENSP00000445079.1:p.Cys535=
ENST00000536980.5:c.*512T=	ENSP00000444178.1:n.*512T=
ENST00000537682.5:c.*512T=	ENSP00000438611.1:n.*512T=
ENST00000538326.5:c.*861T=	ENSP00000437486.1:n.*861T=
ENST00000539145.5:c.1157T=	ENSP00000444471.1:n.1157T=
ENST00000541159.5:c.1778T=	ENSP00000438711.1:n.1778T=
ENST00000542898.5:c.*512T=	ENSP00000444615.1:n.*512T=
ENST00000570511.5:c.1641T=	ENSP00000458312.1:n.1641T=
ENST00000572244.5:c.926T=	ENSP00000461186.1:n.926T=
ENST00000574583.5:c.1008T=	ENSP00000460269.1:n.1008T=
ENST00000576315.5:c.1041T=	ENSP00000460551.1:n.1041T=
ENST00000621655.1:c.1773T=	ENSP00000481436.1:n.1773T=
NM_000243.2:c.2236T= , LRG_190t1:c.2236T=	NP_000234.1:p.Cys746=
NM_001198536.1:c.*440T=	NP_001185465.1:n.*440T=
XM_017023236.2:c.2233T=	XP_016878725.1:p.Cys745=
NM_000243.3:c.2236T= MANE Select	NP_000234.1:p.Cys746=
NM_001198536.2:c.*440T=	NP_001185465.2:n.*440T=