Canonical Allele Identifier: CA2202659087

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244210T= , CM000678.2:g.3244210T=	GRCh38
NC_000016.9:g.3294210T= , CM000678.1:g.3294210T=	GRCh37
NC_000016.8:g.3234211T=	NCBI36
NG_007871.1:g.17418A= , LRG_190:g.17418A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+44A=
ENST00000219596.6:c.1759+44A= MANE Select	ENSP00000219596.1:n.1759+44A=
ENST00000219596.5:c.1759+44A=	ENSP00000219596.1:n.1759+44A=
ENST00000339854.8:c.1219+44A=	ENSP00000339639.4:n.1219+44A=
ENST00000536379.5:c.1126+44A=	ENSP00000445079.1:n.1126+44A=
ENST00000536980.5:c.1170A=	ENSP00000444178.1:p.Ala390=
ENST00000537682.5:c.1803A=	ENSP00000438611.1:p.Ala601=
ENST00000538326.5:c.*384+44A=	ENSP00000437486.1:n.*384+44A=
ENST00000539145.5:c.680+44A=	ENSP00000444471.1:n.680+44A=
ENST00000541159.5:c.1126+44A=	ENSP00000438711.1:n.1126+44A=
ENST00000542898.5:c.1896A=	ENSP00000444615.1:p.Ala632=
ENST00000570511.5:c.1165-318A=	ENSP00000458312.1:n.1165-318A=
ENST00000572244.5:c.449+44A=	ENSP00000461186.1:n.449+44A=
ENST00000574583.5:c.532-318A=	ENSP00000460269.1:n.532-318A=
ENST00000576315.5:c.564+44A=	ENSP00000460551.1:n.564+44A=
ENST00000621655.1:c.1126+44A=	ENSP00000481436.1:n.1126+44A=
NM_000243.2:c.1759+44A= , LRG_190t1:c.1759+44A=	NP_000234.1:n.1759+44A=
NM_001198536.1:c.1126+44A=	NP_001185465.1:n.1126+44A=
XM_017023236.2:c.1756+44A=	XP_016878725.1:n.1756+44A=
XR_001751903.1:n.1992A=
NM_000243.3:c.1759+44A= MANE Select	NP_000234.1:n.1759+44A=
NM_001198536.2:c.1126+44A=	NP_001185465.2:n.1126+44A=