Canonical Allele Identifier: CA2202658582

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243289T= , CM000678.2:g.3243289T=	GRCh38
NC_000016.9:g.3293289T= , CM000678.1:g.3293289T=	GRCh37
NC_000016.8:g.3233290T=	NCBI36
NG_007871.1:g.18339A= , LRG_190:g.18339A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1319A=
ENST00000219596.6:c.2198A= MANE Select	ENSP00000219596.1:p.Asn733=
ENST00000219596.5:c.2198A=	ENSP00000219596.1:p.Asn733=
ENST00000339854.8:c.1658A=	ENSP00000339639.4:p.Asn553=
ENST00000536379.5:c.1565A=	ENSP00000445079.1:p.Asn522=
ENST00000536980.5:c.*474A=	ENSP00000444178.1:n.*474A=
ENST00000537682.5:c.*474A=	ENSP00000438611.1:n.*474A=
ENST00000538326.5:c.*823A=	ENSP00000437486.1:n.*823A=
ENST00000539145.5:c.1119A=	ENSP00000444471.1:n.1119A=
ENST00000541159.5:c.1740A=	ENSP00000438711.1:n.1740A=
ENST00000542898.5:c.*474A=	ENSP00000444615.1:n.*474A=
ENST00000570511.5:c.1603A=	ENSP00000458312.1:n.1603A=
ENST00000572244.5:c.888A=	ENSP00000461186.1:n.888A=
ENST00000574583.5:c.970A=	ENSP00000460269.1:n.970A=
ENST00000576315.5:c.1003A=	ENSP00000460551.1:n.1003A=
ENST00000621655.1:c.1735A=	ENSP00000481436.1:n.1735A=
NM_000243.2:c.2198A= , LRG_190t1:c.2198A=	NP_000234.1:p.Asn733=
NM_001198536.1:c.*402A=	NP_001185465.1:n.*402A=
XM_017023236.2:c.2195A=	XP_016878725.1:p.Asn732=
NM_000243.3:c.2198A= MANE Select	NP_000234.1:p.Asn733=
NM_001198536.2:c.*402A=	NP_001185465.2:n.*402A=