Canonical Allele Identifier: CA2202658587

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243302T= , CM000678.2:g.3243302T=	GRCh38
NC_000016.9:g.3293302T= , CM000678.1:g.3293302T=	GRCh37
NC_000016.8:g.3233303T=	NCBI36
NG_007871.1:g.18326A= , LRG_190:g.18326A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1306A=
ENST00000219596.6:c.2185A= MANE Select	ENSP00000219596.1:p.Ile729=
ENST00000219596.5:c.2185A=	ENSP00000219596.1:p.Ile729=
ENST00000339854.8:c.1645A=	ENSP00000339639.4:p.Ile549=
ENST00000536379.5:c.1552A=	ENSP00000445079.1:p.Ile518=
ENST00000536980.5:c.*461A=	ENSP00000444178.1:n.*461A=
ENST00000537682.5:c.*461A=	ENSP00000438611.1:n.*461A=
ENST00000538326.5:c.*810A=	ENSP00000437486.1:n.*810A=
ENST00000539145.5:c.1106A=	ENSP00000444471.1:n.1106A=
ENST00000541159.5:c.1727A=	ENSP00000438711.1:n.1727A=
ENST00000542898.5:c.*461A=	ENSP00000444615.1:n.*461A=
ENST00000570511.5:c.1590A=	ENSP00000458312.1:n.1590A=
ENST00000572244.5:c.875A=	ENSP00000461186.1:n.875A=
ENST00000574583.5:c.957A=	ENSP00000460269.1:n.957A=
ENST00000576315.5:c.990A=	ENSP00000460551.1:n.990A=
ENST00000621655.1:c.1722A=	ENSP00000481436.1:n.1722A=
NM_000243.2:c.2185A= , LRG_190t1:c.2185A=	NP_000234.1:p.Ile729=
NM_001198536.1:c.*389A=	NP_001185465.1:n.*389A=
XM_017023236.2:c.2182A=	XP_016878725.1:p.Ile728=
NM_000243.3:c.2185A= MANE Select	NP_000234.1:p.Ile729=
NM_001198536.2:c.*389A=	NP_001185465.2:n.*389A=