Canonical Allele Identifier: CA2202658598

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243328A= , CM000678.2:g.3243328A=	GRCh38
NC_000016.9:g.3293328A= , CM000678.1:g.3293328A=	GRCh37
NC_000016.8:g.3233329A=	NCBI36
NG_007871.1:g.18300T= , LRG_190:g.18300T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1280T=
ENST00000219596.6:c.2159T= MANE Select	ENSP00000219596.1:p.Ile720=
ENST00000219596.5:c.2159T=	ENSP00000219596.1:p.Ile720=
ENST00000339854.8:c.1619T=	ENSP00000339639.4:p.Ile540=
ENST00000536379.5:c.1526T=	ENSP00000445079.1:p.Ile509=
ENST00000536980.5:c.*435T=	ENSP00000444178.1:n.*435T=
ENST00000537682.5:c.*435T=	ENSP00000438611.1:n.*435T=
ENST00000538326.5:c.*784T=	ENSP00000437486.1:n.*784T=
ENST00000539145.5:c.1080T=	ENSP00000444471.1:n.1080T=
ENST00000541159.5:c.1701T=	ENSP00000438711.1:n.1701T=
ENST00000542898.5:c.*435T=	ENSP00000444615.1:n.*435T=
ENST00000570511.5:c.1564T=	ENSP00000458312.1:n.1564T=
ENST00000572244.5:c.849T=	ENSP00000461186.1:n.849T=
ENST00000574583.5:c.931T=	ENSP00000460269.1:n.931T=
ENST00000576315.5:c.964T=	ENSP00000460551.1:n.964T=
ENST00000621655.1:c.1696T=	ENSP00000481436.1:n.1696T=
NM_000243.2:c.2159T= , LRG_190t1:c.2159T=	NP_000234.1:p.Ile720=
NM_001198536.1:c.*363T=	NP_001185465.1:n.*363T=
XM_017023236.2:c.2156T=	XP_016878725.1:p.Ile719=
NM_000243.3:c.2159T= MANE Select	NP_000234.1:p.Ile720=
NM_001198536.2:c.*363T=	NP_001185465.2:n.*363T=