Canonical Allele Identifier: CA2202658882

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243876G= , CM000678.2:g.3243876G=	GRCh38
NC_000016.9:g.3293876G= , CM000678.1:g.3293876G=	GRCh37
NC_000016.8:g.3233877G=	NCBI36
NG_007871.1:g.17752C= , LRG_190:g.17752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.897C=
ENST00000219596.6:c.1776C= MANE Select	ENSP00000219596.1:p.Gly592=
ENST00000219596.5:c.1776C=	ENSP00000219596.1:p.Gly592=
ENST00000339854.8:c.1236C=	ENSP00000339639.4:p.Gly412=
ENST00000536379.5:c.1143C=	ENSP00000445079.1:p.Gly381=
ENST00000536980.5:c.*52C=	ENSP00000444178.1:n.*52C=
ENST00000537682.5:c.*52C=	ENSP00000438611.1:n.*52C=
ENST00000538326.5:c.*401C=	ENSP00000437486.1:n.*401C=
ENST00000539145.5:c.697C=	ENSP00000444471.1:n.697C=
ENST00000541159.5:c.1318C=	ENSP00000438711.1:p.Arg440=
ENST00000542898.5:c.*52C=	ENSP00000444615.1:n.*52C=
ENST00000570511.5:c.1181C=	ENSP00000458312.1:n.1181C=
ENST00000572244.5:c.466C=	ENSP00000461186.1:n.466C=
ENST00000574583.5:c.548C=	ENSP00000460269.1:n.548C=
ENST00000576315.5:c.581C=	ENSP00000460551.1:n.581C=
ENST00000621655.1:c.1313C=	ENSP00000481436.1:n.1313C=
NM_000243.2:c.1776C= , LRG_190t1:c.1776C=	NP_000234.1:p.Gly592=
NM_001198536.1:c.1318C=	NP_001185465.1:p.Arg440=
XM_017023236.2:c.1773C=	XP_016878725.1:p.Gly591=
XR_001751903.1:n.2083C=
NM_000243.3:c.1776C= MANE Select	NP_000234.1:p.Gly592=
NM_001198536.2:c.1318C=	NP_001185465.2:p.Arg440=