Canonical Allele Identifier: CA2202658532

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243197C= , CM000678.2:g.3243197C=	GRCh38
NC_000016.9:g.3293197C= , CM000678.1:g.3293197C=	GRCh37
NC_000016.8:g.3233198C=	NCBI36
NG_007871.1:g.18431G= , LRG_190:g.18431G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1411G=
ENST00000219596.6:c.2290G= MANE Select	ENSP00000219596.1:p.Gly764=
ENST00000219596.5:c.2290G=	ENSP00000219596.1:p.Gly764=
ENST00000339854.8:c.1750G=	ENSP00000339639.4:p.Gly584=
ENST00000536379.5:c.1657G=	ENSP00000445079.1:p.Gly553=
ENST00000536980.5:c.*566G=	ENSP00000444178.1:n.*566G=
ENST00000537682.5:c.*566G=	ENSP00000438611.1:n.*566G=
ENST00000538326.5:c.*915G=	ENSP00000437486.1:n.*915G=
ENST00000539145.5:c.1211G=	ENSP00000444471.1:n.1211G=
ENST00000541159.5:c.1832G=	ENSP00000438711.1:n.1832G=
ENST00000542898.5:c.*566G=	ENSP00000444615.1:n.*566G=
ENST00000570511.5:c.1695G=	ENSP00000458312.1:n.1695G=
ENST00000572244.5:c.980G=	ENSP00000461186.1:n.980G=
ENST00000574583.5:c.1062G=	ENSP00000460269.1:n.1062G=
ENST00000576315.5:c.1095G=	ENSP00000460551.1:n.1095G=
ENST00000621655.1:c.1827G=	ENSP00000481436.1:n.1827G=
NM_000243.2:c.2290G= , LRG_190t1:c.2290G=	NP_000234.1:p.Gly764=
NM_001198536.1:c.*494G=	NP_001185465.1:n.*494G=
XM_017023236.2:c.2287G=	XP_016878725.1:p.Gly763=
NM_000243.3:c.2290G= MANE Select	NP_000234.1:p.Gly764=
NM_001198536.2:c.*494G=	NP_001185465.2:n.*494G=