Canonical Allele Identifier: CA2202658616

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243358A= , CM000678.2:g.3243358A=	GRCh38
NC_000016.9:g.3293358A= , CM000678.1:g.3293358A=	GRCh37
NC_000016.8:g.3233359A=	NCBI36
NG_007871.1:g.18270T= , LRG_190:g.18270T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1250T=
ENST00000219596.6:c.2129T= MANE Select	ENSP00000219596.1:p.Leu710=
ENST00000219596.5:c.2129T=	ENSP00000219596.1:p.Leu710=
ENST00000339854.8:c.1589T=	ENSP00000339639.4:p.Leu530=
ENST00000536379.5:c.1496T=	ENSP00000445079.1:p.Leu499=
ENST00000536980.5:c.*405T=	ENSP00000444178.1:n.*405T=
ENST00000537682.5:c.*405T=	ENSP00000438611.1:n.*405T=
ENST00000538326.5:c.*754T=	ENSP00000437486.1:n.*754T=
ENST00000539145.5:c.1050T=	ENSP00000444471.1:n.1050T=
ENST00000541159.5:c.1671T=	ENSP00000438711.1:n.1671T=
ENST00000542898.5:c.*405T=	ENSP00000444615.1:n.*405T=
ENST00000570511.5:c.1534T=	ENSP00000458312.1:n.1534T=
ENST00000572244.5:c.819T=	ENSP00000461186.1:n.819T=
ENST00000574583.5:c.901T=	ENSP00000460269.1:n.901T=
ENST00000576315.5:c.934T=	ENSP00000460551.1:n.934T=
ENST00000621655.1:c.1666T=	ENSP00000481436.1:n.1666T=
NM_000243.2:c.2129T= , LRG_190t1:c.2129T=	NP_000234.1:p.Leu710=
NM_001198536.1:c.*333T=	NP_001185465.1:n.*333T=
XM_017023236.2:c.2126T=	XP_016878725.1:p.Leu709=
NM_000243.3:c.2129T= MANE Select	NP_000234.1:p.Leu710=
NM_001198536.2:c.*333T=	NP_001185465.2:n.*333T=