Canonical Allele Identifier: CA2202658590

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243310A= , CM000678.2:g.3243310A=	GRCh38
NC_000016.9:g.3293310A= , CM000678.1:g.3293310A=	GRCh37
NC_000016.8:g.3233311A=	NCBI36
NG_007871.1:g.18318T= , LRG_190:g.18318T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2177T= MANE Select	NP_000234.1:p.Val726=
ENST00000219596.6:c.2177T= MANE Select	ENSP00000219596.1:p.Val726=
NM_000243.2:c.2177T= , LRG_190t1:c.2177T=	NP_000234.1:p.Val726=
NM_001198536.1:c.*381T=	NP_001185465.1:n.*381T=
NM_001198536.2:c.*381T=	NP_001185465.2:n.*381T=
ENST00000219596.5:c.2177T=	ENSP00000219596.1:p.Val726=
ENST00000339854.8:c.1637T=	ENSP00000339639.4:p.Val546=
ENST00000536379.5:c.1544T=	ENSP00000445079.1:p.Val515=
ENST00000536980.5:c.*453T=	ENSP00000444178.1:n.*453T=
ENST00000537682.5:c.*453T=	ENSP00000438611.1:n.*453T=
ENST00000538326.5:c.*802T=	ENSP00000437486.1:n.*802T=
ENST00000539145.5:c.1098T=	ENSP00000444471.1:n.1098T=
ENST00000541159.5:c.1719T=	ENSP00000438711.1:n.1719T=
ENST00000542898.5:c.*453T=	ENSP00000444615.1:n.*453T=
ENST00000570511.5:c.1582T=	ENSP00000458312.1:n.1582T=
ENST00000572244.5:c.867T=	ENSP00000461186.1:n.867T=
ENST00000574583.5:c.949T=	ENSP00000460269.1:n.949T=
ENST00000576315.5:c.982T=	ENSP00000460551.1:n.982T=
ENST00000621655.1:c.1714T=	ENSP00000481436.1:n.1714T=
ENST00000697124.1:n.1298T=
XM_017023236.2:c.2174T=	XP_016878725.1:p.Val725=