Canonical Allele Identifier: CA2202658723

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243564A= , CM000678.2:g.3243564A=	GRCh38
NC_000016.9:g.3293564A= , CM000678.1:g.3293564A=	GRCh37
NC_000016.8:g.3233565A=	NCBI36
NG_007871.1:g.18064T= , LRG_190:g.18064T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1044T=
ENST00000219596.6:c.1923T= MANE Select	ENSP00000219596.1:p.Ile641=
ENST00000219596.5:c.1923T=	ENSP00000219596.1:p.Ile641=
ENST00000339854.8:c.1383T=	ENSP00000339639.4:p.Ile461=
ENST00000536379.5:c.1290T=	ENSP00000445079.1:p.Ile430=
ENST00000536980.5:c.*199T=	ENSP00000444178.1:n.*199T=
ENST00000537682.5:c.*199T=	ENSP00000438611.1:n.*199T=
ENST00000538326.5:c.*548T=	ENSP00000437486.1:n.*548T=
ENST00000539145.5:c.844T=	ENSP00000444471.1:n.844T=
ENST00000541159.5:c.1465T=	ENSP00000438711.1:n.1465T=
ENST00000542898.5:c.*199T=	ENSP00000444615.1:n.*199T=
ENST00000570511.5:c.1328T=	ENSP00000458312.1:n.1328T=
ENST00000572244.5:c.613T=	ENSP00000461186.1:n.613T=
ENST00000574583.5:c.695T=	ENSP00000460269.1:n.695T=
ENST00000576315.5:c.728T=	ENSP00000460551.1:n.728T=
ENST00000621655.1:c.1460T=	ENSP00000481436.1:n.1460T=
NM_000243.2:c.1923T= , LRG_190t1:c.1923T=	NP_000234.1:p.Ile641=
NM_001198536.1:c.*127T=	NP_001185465.1:n.*127T=
XM_017023236.2:c.1920T=	XP_016878725.1:p.Ile640=
NM_000243.3:c.1923T= MANE Select	NP_000234.1:p.Ile641=
NM_001198536.2:c.*127T=	NP_001185465.2:n.*127T=