Canonical Allele Identifier: CA2202658692

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243501C= , CM000678.2:g.3243501C=	GRCh38
NC_000016.9:g.3293501C= , CM000678.1:g.3293501C=	GRCh37
NC_000016.8:g.3233502C=	NCBI36
NG_007871.1:g.18127G= , LRG_190:g.18127G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1107G=
ENST00000219596.6:c.1986G= MANE Select	ENSP00000219596.1:p.Lys662=
ENST00000219596.5:c.1986G=	ENSP00000219596.1:p.Lys662=
ENST00000339854.8:c.1446G=	ENSP00000339639.4:p.Lys482=
ENST00000536379.5:c.1353G=	ENSP00000445079.1:p.Lys451=
ENST00000536980.5:c.*262G=	ENSP00000444178.1:n.*262G=
ENST00000537682.5:c.*262G=	ENSP00000438611.1:n.*262G=
ENST00000538326.5:c.*611G=	ENSP00000437486.1:n.*611G=
ENST00000539145.5:c.907G=	ENSP00000444471.1:n.907G=
ENST00000541159.5:c.1528G=	ENSP00000438711.1:n.1528G=
ENST00000542898.5:c.*262G=	ENSP00000444615.1:n.*262G=
ENST00000570511.5:c.1391G=	ENSP00000458312.1:n.1391G=
ENST00000572244.5:c.676G=	ENSP00000461186.1:n.676G=
ENST00000574583.5:c.758G=	ENSP00000460269.1:n.758G=
ENST00000576315.5:c.791G=	ENSP00000460551.1:n.791G=
ENST00000621655.1:c.1523G=	ENSP00000481436.1:n.1523G=
NM_000243.2:c.1986G= , LRG_190t1:c.1986G=	NP_000234.1:p.Lys662=
NM_001198536.1:c.*190G=	NP_001185465.1:n.*190G=
XM_017023236.2:c.1983G=	XP_016878725.1:p.Lys661=
NM_000243.3:c.1986G= MANE Select	NP_000234.1:p.Lys662=
NM_001198536.2:c.*190G=	NP_001185465.2:n.*190G=