Canonical Allele Identifier: CA2202658630

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243376A= , CM000678.2:g.3243376A=	GRCh38
NC_000016.9:g.3293376A= , CM000678.1:g.3293376A=	GRCh37
NC_000016.8:g.3233377A=	NCBI36
NG_007871.1:g.18252T= , LRG_190:g.18252T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1232T=
ENST00000219596.6:c.2111T= MANE Select	ENSP00000219596.1:p.Val704=
ENST00000219596.5:c.2111T=	ENSP00000219596.1:p.Val704=
ENST00000339854.8:c.1571T=	ENSP00000339639.4:p.Val524=
ENST00000536379.5:c.1478T=	ENSP00000445079.1:p.Val493=
ENST00000536980.5:c.*387T=	ENSP00000444178.1:n.*387T=
ENST00000537682.5:c.*387T=	ENSP00000438611.1:n.*387T=
ENST00000538326.5:c.*736T=	ENSP00000437486.1:n.*736T=
ENST00000539145.5:c.1032T=	ENSP00000444471.1:n.1032T=
ENST00000541159.5:c.1653T=	ENSP00000438711.1:n.1653T=
ENST00000542898.5:c.*387T=	ENSP00000444615.1:n.*387T=
ENST00000570511.5:c.1516T=	ENSP00000458312.1:n.1516T=
ENST00000572244.5:c.801T=	ENSP00000461186.1:n.801T=
ENST00000574583.5:c.883T=	ENSP00000460269.1:n.883T=
ENST00000576315.5:c.916T=	ENSP00000460551.1:n.916T=
ENST00000621655.1:c.1648T=	ENSP00000481436.1:n.1648T=
NM_000243.2:c.2111T= , LRG_190t1:c.2111T=	NP_000234.1:p.Val704=
NM_001198536.1:c.*315T=	NP_001185465.1:n.*315T=
XM_017023236.2:c.2108T=	XP_016878725.1:p.Val703=
NM_000243.3:c.2111T= MANE Select	NP_000234.1:p.Val704=
NM_001198536.2:c.*315T=	NP_001185465.2:n.*315T=