Canonical Allele Identifier: CA2202658691

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243497C= , CM000678.2:g.3243497C=	GRCh38
NC_000016.9:g.3293497C= , CM000678.1:g.3293497C=	GRCh37
NC_000016.8:g.3233498C=	NCBI36
NG_007871.1:g.18131G= , LRG_190:g.18131G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1111G=
ENST00000219596.6:c.1990G= MANE Select	ENSP00000219596.1:p.Ala664=
ENST00000219596.5:c.1990G=	ENSP00000219596.1:p.Ala664=
ENST00000339854.8:c.1450G=	ENSP00000339639.4:p.Ala484=
ENST00000536379.5:c.1357G=	ENSP00000445079.1:p.Ala453=
ENST00000536980.5:c.*266G=	ENSP00000444178.1:n.*266G=
ENST00000537682.5:c.*266G=	ENSP00000438611.1:n.*266G=
ENST00000538326.5:c.*615G=	ENSP00000437486.1:n.*615G=
ENST00000539145.5:c.911G=	ENSP00000444471.1:n.911G=
ENST00000541159.5:c.1532G=	ENSP00000438711.1:n.1532G=
ENST00000542898.5:c.*266G=	ENSP00000444615.1:n.*266G=
ENST00000570511.5:c.1395G=	ENSP00000458312.1:n.1395G=
ENST00000572244.5:c.680G=	ENSP00000461186.1:n.680G=
ENST00000574583.5:c.762G=	ENSP00000460269.1:n.762G=
ENST00000576315.5:c.795G=	ENSP00000460551.1:n.795G=
ENST00000621655.1:c.1527G=	ENSP00000481436.1:n.1527G=
NM_000243.2:c.1990G= , LRG_190t1:c.1990G=	NP_000234.1:p.Ala664=
NM_001198536.1:c.*194G=	NP_001185465.1:n.*194G=
XM_017023236.2:c.1987G=	XP_016878725.1:p.Ala663=
NM_000243.3:c.1990G= MANE Select	NP_000234.1:p.Ala664=
NM_001198536.2:c.*194G=	NP_001185465.2:n.*194G=