Canonical Allele Identifier: CA2202660592

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247079C= , CM000678.2:g.3247079C=	GRCh38
NC_000016.9:g.3297079C= , CM000678.1:g.3297079C=	GRCh37
NC_000016.8:g.3237080C=	NCBI36
NG_007871.1:g.14549G= , LRG_190:g.14549G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1524G= MANE Select	ENSP00000219596.1:p.Leu508=
ENST00000219596.5:c.1524G=	ENSP00000219596.1:p.Leu508=
ENST00000339854.8:c.984G=	ENSP00000339639.4:p.Leu328=
ENST00000536379.5:c.891G=	ENSP00000445079.1:p.Leu297=
ENST00000536980.5:c.891G=	ENSP00000444178.1:p.Leu297=
ENST00000537682.5:c.1524G=	ENSP00000438611.1:p.Leu508=
ENST00000538326.5:c.*149G=	ENSP00000437486.1:n.*149G=
ENST00000539145.5:c.445G=	ENSP00000444471.1:n.445G=
ENST00000539154.1:n.889G=
ENST00000541159.5:c.891G=	ENSP00000438711.1:p.Leu297=
ENST00000542898.5:c.1617G=	ENSP00000444615.1:p.Leu539=
ENST00000570511.5:c.1078G=	ENSP00000458312.1:n.1078G=
ENST00000572244.5:c.278-532G=	ENSP00000461186.1:n.278-532G=
ENST00000574583.5:c.445G=	ENSP00000460269.1:n.445G=
ENST00000576315.5:c.445G=	ENSP00000460551.1:n.445G=
ENST00000621655.1:c.891G=	ENSP00000481436.1:p.Leu297=
NM_000243.2:c.1524G= , LRG_190t1:c.1524G=	NP_000234.1:p.Leu508=
NM_001198536.1:c.891G=	NP_001185465.1:p.Leu297=
XM_017023236.2:c.1521G=	XP_016878725.1:p.Leu507=
XR_001751903.1:n.1713G=
NM_000243.3:c.1524G= MANE Select	NP_000234.1:p.Leu508=
NM_001198536.2:c.891G=	NP_001185465.2:p.Leu297=