Canonical Allele Identifier: CA2202659253

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244560A= , CM000678.2:g.3244560A=	GRCh38
NC_000016.9:g.3294560A= , CM000678.1:g.3294560A=	GRCh37
NC_000016.8:g.3234561A=	NCBI36
NG_007871.1:g.17068T= , LRG_190:g.17068T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.760T=
ENST00000219596.6:c.1639T= MANE Select	ENSP00000219596.1:p.Trp547=
ENST00000219596.5:c.1639T=	ENSP00000219596.1:p.Trp547=
ENST00000339854.8:c.1099T=	ENSP00000339639.4:p.Trp367=
ENST00000536379.5:c.1006T=	ENSP00000445079.1:p.Trp336=
ENST00000536980.5:c.1006T=	ENSP00000444178.1:p.Trp336=
ENST00000537682.5:c.1639T=	ENSP00000438611.1:p.Trp547=
ENST00000538326.5:c.*264T=	ENSP00000437486.1:n.*264T=
ENST00000539145.5:c.560T=	ENSP00000444471.1:n.560T=
ENST00000541159.5:c.1006T=	ENSP00000438711.1:p.Trp336=
ENST00000542898.5:c.1732T=	ENSP00000444615.1:p.Trp578=
ENST00000570511.5:c.1165-668T=	ENSP00000458312.1:n.1165-668T=
ENST00000572244.5:c.329T=	ENSP00000461186.1:n.329T=
ENST00000574583.5:c.532-668T=	ENSP00000460269.1:n.532-668T=
ENST00000576315.5:c.532-274T=	ENSP00000460551.1:n.532-274T=
ENST00000621655.1:c.1006T=	ENSP00000481436.1:p.Trp336=
NM_000243.2:c.1639T= , LRG_190t1:c.1639T=	NP_000234.1:p.Trp547=
NM_001198536.1:c.1006T=	NP_001185465.1:p.Trp336=
XM_017023236.2:c.1636T=	XP_016878725.1:p.Trp546=
XR_001751903.1:n.1828T=
NM_000243.3:c.1639T= MANE Select	NP_000234.1:p.Trp547=
NM_001198536.2:c.1006T=	NP_001185465.2:p.Trp336=