Canonical Allele Identifier: CA2202658547

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243232A= , CM000678.2:g.3243232A=	GRCh38
NC_000016.9:g.3293232A= , CM000678.1:g.3293232A=	GRCh37
NC_000016.8:g.3233233A=	NCBI36
NG_007871.1:g.18396T= , LRG_190:g.18396T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1376T=
ENST00000219596.6:c.2255T= MANE Select	ENSP00000219596.1:p.Leu752=
ENST00000219596.5:c.2255T=	ENSP00000219596.1:p.Leu752=
ENST00000339854.8:c.1715T=	ENSP00000339639.4:p.Leu572=
ENST00000536379.5:c.1622T=	ENSP00000445079.1:p.Leu541=
ENST00000536980.5:c.*531T=	ENSP00000444178.1:n.*531T=
ENST00000537682.5:c.*531T=	ENSP00000438611.1:n.*531T=
ENST00000538326.5:c.*880T=	ENSP00000437486.1:n.*880T=
ENST00000539145.5:c.1176T=	ENSP00000444471.1:n.1176T=
ENST00000541159.5:c.1797T=	ENSP00000438711.1:n.1797T=
ENST00000542898.5:c.*531T=	ENSP00000444615.1:n.*531T=
ENST00000570511.5:c.1660T=	ENSP00000458312.1:n.1660T=
ENST00000572244.5:c.945T=	ENSP00000461186.1:n.945T=
ENST00000574583.5:c.1027T=	ENSP00000460269.1:n.1027T=
ENST00000576315.5:c.1060T=	ENSP00000460551.1:n.1060T=
ENST00000621655.1:c.1792T=	ENSP00000481436.1:n.1792T=
NM_000243.2:c.2255T= , LRG_190t1:c.2255T=	NP_000234.1:p.Leu752=
NM_001198536.1:c.*459T=	NP_001185465.1:n.*459T=
XM_017023236.2:c.2252T=	XP_016878725.1:p.Leu751=
NM_000243.3:c.2255T= MANE Select	NP_000234.1:p.Leu752=
NM_001198536.2:c.*459T=	NP_001185465.2:n.*459T=