Canonical Allele Identifier: CA2202660596

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247087T= , CM000678.2:g.3247087T=	GRCh38
NC_000016.9:g.3297087T= , CM000678.1:g.3297087T=	GRCh37
NC_000016.8:g.3237088T=	NCBI36
NG_007871.1:g.14541A= , LRG_190:g.14541A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1516A= MANE Select	ENSP00000219596.1:p.Ile506=
ENST00000219596.5:c.1516A=	ENSP00000219596.1:p.Ile506=
ENST00000339854.8:c.976A=	ENSP00000339639.4:p.Ile326=
ENST00000536379.5:c.883A=	ENSP00000445079.1:p.Ile295=
ENST00000536980.5:c.883A=	ENSP00000444178.1:p.Ile295=
ENST00000537682.5:c.1516A=	ENSP00000438611.1:p.Ile506=
ENST00000538326.5:c.*141A=	ENSP00000437486.1:n.*141A=
ENST00000539145.5:c.437A=	ENSP00000444471.1:n.437A=
ENST00000539154.1:n.881A=
ENST00000541159.5:c.883A=	ENSP00000438711.1:p.Ile295=
ENST00000542898.5:c.1609A=	ENSP00000444615.1:p.Ile537=
ENST00000570511.5:c.1070A=	ENSP00000458312.1:n.1070A=
ENST00000572244.5:c.278-540A=	ENSP00000461186.1:n.278-540A=
ENST00000574583.5:c.437A=	ENSP00000460269.1:n.437A=
ENST00000576315.5:c.437A=	ENSP00000460551.1:n.437A=
ENST00000621655.1:c.883A=	ENSP00000481436.1:p.Ile295=
NM_000243.2:c.1516A= , LRG_190t1:c.1516A=	NP_000234.1:p.Ile506=
NM_001198536.1:c.883A=	NP_001185465.1:p.Ile295=
XM_017023236.2:c.1513A=	XP_016878725.1:p.Ile505=
XR_001751903.1:n.1705A=
NM_000243.3:c.1516A= MANE Select	NP_000234.1:p.Ile506=
NM_001198536.2:c.883A=	NP_001185465.2:p.Ile295=