Canonical Allele Identifier: CA2202658651

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243409A= , CM000678.2:g.3243409A=	GRCh38
NC_000016.9:g.3293409A= , CM000678.1:g.3293409A=	GRCh37
NC_000016.8:g.3233410A=	NCBI36
NG_007871.1:g.18219T= , LRG_190:g.18219T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1199T=
ENST00000219596.6:c.2078T= MANE Select	ENSP00000219596.1:p.Met693=
ENST00000219596.5:c.2078T=	ENSP00000219596.1:p.Met693=
ENST00000339854.8:c.1538T=	ENSP00000339639.4:p.Met513=
ENST00000536379.5:c.1445T=	ENSP00000445079.1:p.Met482=
ENST00000536980.5:c.*354T=	ENSP00000444178.1:n.*354T=
ENST00000537682.5:c.*354T=	ENSP00000438611.1:n.*354T=
ENST00000538326.5:c.*703T=	ENSP00000437486.1:n.*703T=
ENST00000539145.5:c.999T=	ENSP00000444471.1:n.999T=
ENST00000541159.5:c.1620T=	ENSP00000438711.1:n.1620T=
ENST00000542898.5:c.*354T=	ENSP00000444615.1:n.*354T=
ENST00000570511.5:c.1483T=	ENSP00000458312.1:n.1483T=
ENST00000572244.5:c.768T=	ENSP00000461186.1:n.768T=
ENST00000574583.5:c.850T=	ENSP00000460269.1:n.850T=
ENST00000576315.5:c.883T=	ENSP00000460551.1:n.883T=
ENST00000621655.1:c.1615T=	ENSP00000481436.1:n.1615T=
NM_000243.2:c.2078T= , LRG_190t1:c.2078T=	NP_000234.1:p.Met693=
NM_001198536.1:c.*282T=	NP_001185465.1:n.*282T=
XM_017023236.2:c.2075T=	XP_016878725.1:p.Met692=
NM_000243.3:c.2078T= MANE Select	NP_000234.1:p.Met693=
NM_001198536.2:c.*282T=	NP_001185465.2:n.*282T=