Canonical Allele Identifier: CA2202658635

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243385G= , CM000678.2:g.3243385G=	GRCh38
NC_000016.9:g.3293385G= , CM000678.1:g.3293385G=	GRCh37
NC_000016.8:g.3233386G=	NCBI36
NG_007871.1:g.18243C= , LRG_190:g.18243C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1223C=
ENST00000219596.6:c.2102C= MANE Select	ENSP00000219596.1:p.Ala701=
ENST00000219596.5:c.2102C=	ENSP00000219596.1:p.Ala701=
ENST00000339854.8:c.1562C=	ENSP00000339639.4:p.Ala521=
ENST00000536379.5:c.1469C=	ENSP00000445079.1:p.Ala490=
ENST00000536980.5:c.*378C=	ENSP00000444178.1:n.*378C=
ENST00000537682.5:c.*378C=	ENSP00000438611.1:n.*378C=
ENST00000538326.5:c.*727C=	ENSP00000437486.1:n.*727C=
ENST00000539145.5:c.1023C=	ENSP00000444471.1:n.1023C=
ENST00000541159.5:c.1644C=	ENSP00000438711.1:n.1644C=
ENST00000542898.5:c.*378C=	ENSP00000444615.1:n.*378C=
ENST00000570511.5:c.1507C=	ENSP00000458312.1:n.1507C=
ENST00000572244.5:c.792C=	ENSP00000461186.1:n.792C=
ENST00000574583.5:c.874C=	ENSP00000460269.1:n.874C=
ENST00000576315.5:c.907C=	ENSP00000460551.1:n.907C=
ENST00000621655.1:c.1639C=	ENSP00000481436.1:n.1639C=
NM_000243.2:c.2102C= , LRG_190t1:c.2102C=	NP_000234.1:p.Ala701=
NM_001198536.1:c.*306C=	NP_001185465.1:n.*306C=
XM_017023236.2:c.2099C=	XP_016878725.1:p.Ala700=
NM_000243.3:c.2102C= MANE Select	NP_000234.1:p.Ala701=
NM_001198536.2:c.*306C=	NP_001185465.2:n.*306C=