Canonical Allele Identifier: CA2202658567

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243263T= , CM000678.2:g.3243263T=	GRCh38
NC_000016.9:g.3293263T= , CM000678.1:g.3293263T=	GRCh37
NC_000016.8:g.3233264T=	NCBI36
NG_007871.1:g.18365A= , LRG_190:g.18365A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1345A=
ENST00000219596.6:c.2224A= MANE Select	ENSP00000219596.1:p.Thr742=
ENST00000219596.5:c.2224A=	ENSP00000219596.1:p.Thr742=
ENST00000339854.8:c.1684A=	ENSP00000339639.4:p.Thr562=
ENST00000536379.5:c.1591A=	ENSP00000445079.1:p.Thr531=
ENST00000536980.5:c.*500A=	ENSP00000444178.1:n.*500A=
ENST00000537682.5:c.*500A=	ENSP00000438611.1:n.*500A=
ENST00000538326.5:c.*849A=	ENSP00000437486.1:n.*849A=
ENST00000539145.5:c.1145A=	ENSP00000444471.1:n.1145A=
ENST00000541159.5:c.1766A=	ENSP00000438711.1:n.1766A=
ENST00000542898.5:c.*500A=	ENSP00000444615.1:n.*500A=
ENST00000570511.5:c.1629A=	ENSP00000458312.1:n.1629A=
ENST00000572244.5:c.914A=	ENSP00000461186.1:n.914A=
ENST00000574583.5:c.996A=	ENSP00000460269.1:n.996A=
ENST00000576315.5:c.1029A=	ENSP00000460551.1:n.1029A=
ENST00000621655.1:c.1761A=	ENSP00000481436.1:n.1761A=
NM_000243.2:c.2224A= , LRG_190t1:c.2224A=	NP_000234.1:p.Thr742=
NM_001198536.1:c.*428A=	NP_001185465.1:n.*428A=
XM_017023236.2:c.2221A=	XP_016878725.1:p.Thr741=
NM_000243.3:c.2224A= MANE Select	NP_000234.1:p.Thr742=
NM_001198536.2:c.*428A=	NP_001185465.2:n.*428A=