Canonical Allele Identifier: CA2202658607

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243341T= , CM000678.2:g.3243341T=	GRCh38
NC_000016.9:g.3293341T= , CM000678.1:g.3293341T=	GRCh37
NC_000016.8:g.3233342T=	NCBI36
NG_007871.1:g.18287A= , LRG_190:g.18287A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1267A=
ENST00000219596.6:c.2146A= MANE Select	ENSP00000219596.1:p.Lys716=
ENST00000219596.5:c.2146A=	ENSP00000219596.1:p.Lys716=
ENST00000339854.8:c.1606A=	ENSP00000339639.4:p.Lys536=
ENST00000536379.5:c.1513A=	ENSP00000445079.1:p.Lys505=
ENST00000536980.5:c.*422A=	ENSP00000444178.1:n.*422A=
ENST00000537682.5:c.*422A=	ENSP00000438611.1:n.*422A=
ENST00000538326.5:c.*771A=	ENSP00000437486.1:n.*771A=
ENST00000539145.5:c.1067A=	ENSP00000444471.1:n.1067A=
ENST00000541159.5:c.1688A=	ENSP00000438711.1:n.1688A=
ENST00000542898.5:c.*422A=	ENSP00000444615.1:n.*422A=
ENST00000570511.5:c.1551A=	ENSP00000458312.1:n.1551A=
ENST00000572244.5:c.836A=	ENSP00000461186.1:n.836A=
ENST00000574583.5:c.918A=	ENSP00000460269.1:n.918A=
ENST00000576315.5:c.951A=	ENSP00000460551.1:n.951A=
ENST00000621655.1:c.1683A=	ENSP00000481436.1:n.1683A=
NM_000243.2:c.2146A= , LRG_190t1:c.2146A=	NP_000234.1:p.Lys716=
NM_001198536.1:c.*350A=	NP_001185465.1:n.*350A=
XM_017023236.2:c.2143A=	XP_016878725.1:p.Lys715=
NM_000243.3:c.2146A= MANE Select	NP_000234.1:p.Lys716=
NM_001198536.2:c.*350A=	NP_001185465.2:n.*350A=