Canonical Allele Identifier: CA2202658658

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243421C= , CM000678.2:g.3243421C=	GRCh38
NC_000016.9:g.3293421C= , CM000678.1:g.3293421C=	GRCh37
NC_000016.8:g.3233422C=	NCBI36
NG_007871.1:g.18207G= , LRG_190:g.18207G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1187G=
ENST00000219596.6:c.2066G= MANE Select	ENSP00000219596.1:p.Trp689=
ENST00000219596.5:c.2066G=	ENSP00000219596.1:p.Trp689=
ENST00000339854.8:c.1526G=	ENSP00000339639.4:p.Trp509=
ENST00000536379.5:c.1433G=	ENSP00000445079.1:p.Trp478=
ENST00000536980.5:c.*342G=	ENSP00000444178.1:n.*342G=
ENST00000537682.5:c.*342G=	ENSP00000438611.1:n.*342G=
ENST00000538326.5:c.*691G=	ENSP00000437486.1:n.*691G=
ENST00000539145.5:c.987G=	ENSP00000444471.1:n.987G=
ENST00000541159.5:c.1608G=	ENSP00000438711.1:n.1608G=
ENST00000542898.5:c.*342G=	ENSP00000444615.1:n.*342G=
ENST00000570511.5:c.1471G=	ENSP00000458312.1:n.1471G=
ENST00000572244.5:c.756G=	ENSP00000461186.1:n.756G=
ENST00000574583.5:c.838G=	ENSP00000460269.1:n.838G=
ENST00000576315.5:c.871G=	ENSP00000460551.1:n.871G=
ENST00000621655.1:c.1603G=	ENSP00000481436.1:n.1603G=
NM_000243.2:c.2066G= , LRG_190t1:c.2066G=	NP_000234.1:p.Trp689=
NM_001198536.1:c.*270G=	NP_001185465.1:n.*270G=
XM_017023236.2:c.2063G=	XP_016878725.1:p.Trp688=
NM_000243.3:c.2066G= MANE Select	NP_000234.1:p.Trp689=
NM_001198536.2:c.*270G=	NP_001185465.2:n.*270G=