Canonical Allele Identifier: CA2202659219

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244488T= , CM000678.2:g.3244488T=	GRCh38
NC_000016.9:g.3294488T= , CM000678.1:g.3294488T=	GRCh37
NC_000016.8:g.3234489T=	NCBI36
NG_007871.1:g.17140A= , LRG_190:g.17140A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.832A=
ENST00000219596.6:c.1711A= MANE Select	ENSP00000219596.1:p.Thr571=
ENST00000219596.5:c.1711A=	ENSP00000219596.1:p.Thr571=
ENST00000339854.8:c.1171A=	ENSP00000339639.4:p.Thr391=
ENST00000536379.5:c.1078A=	ENSP00000445079.1:p.Thr360=
ENST00000536980.5:c.1078A=	ENSP00000444178.1:p.Thr360=
ENST00000537682.5:c.1711A=	ENSP00000438611.1:p.Thr571=
ENST00000538326.5:c.*336A=	ENSP00000437486.1:n.*336A=
ENST00000539145.5:c.632A=	ENSP00000444471.1:n.632A=
ENST00000541159.5:c.1078A=	ENSP00000438711.1:p.Thr360=
ENST00000542898.5:c.1804A=	ENSP00000444615.1:p.Thr602=
ENST00000570511.5:c.1165-596A=	ENSP00000458312.1:n.1165-596A=
ENST00000572244.5:c.401A=	ENSP00000461186.1:n.401A=
ENST00000574583.5:c.532-596A=	ENSP00000460269.1:n.532-596A=
ENST00000576315.5:c.532-202A=	ENSP00000460551.1:n.532-202A=
ENST00000621655.1:c.1078A=	ENSP00000481436.1:p.Thr360=
NM_000243.2:c.1711A= , LRG_190t1:c.1711A=	NP_000234.1:p.Thr571=
NM_001198536.1:c.1078A=	NP_001185465.1:p.Thr360=
XM_017023236.2:c.1708A=	XP_016878725.1:p.Thr570=
XR_001751903.1:n.1900A=
NM_000243.3:c.1711A= MANE Select	NP_000234.1:p.Thr571=
NM_001198536.2:c.1078A=	NP_001185465.2:p.Thr360=