Canonical Allele Identifier: CA493383854

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247202C>T , CM000678.2:g.3247202C>T	GRCh38
NC_000016.9:g.3297202C>T , CM000678.1:g.3297202C>T	GRCh37
NC_000016.8:g.3237203C>T	NCBI36
NG_007871.1:g.14426G>A , LRG_190:g.14426G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1401G>A MANE Select	NP_000234.1:p.Glu467=
ENST00000219596.6:c.1401G>A MANE Select	ENSP00000219596.1:p.Glu467=
NM_000243.2:c.1401G>A , LRG_190t1:c.1401G>A	NP_000234.1:p.Glu467=
NM_001198536.1:c.768G>A	NP_001185465.1:p.Glu256=
NM_001198536.2:c.768G>A	NP_001185465.2:p.Glu256=
ENST00000219596.5:c.1401G>A	ENSP00000219596.1:p.Glu467=
ENST00000339854.8:c.861G>A	ENSP00000339639.4:p.Glu287=
ENST00000536379.5:c.768G>A	ENSP00000445079.1:p.Glu256=
ENST00000536980.5:c.768G>A	ENSP00000444178.1:p.Glu256=
ENST00000537682.5:c.1401G>A	ENSP00000438611.1:p.Glu467=
ENST00000538326.5:c.*26G>A	ENSP00000437486.1:n.*26G>A
ENST00000539145.5:c.322G>A	ENSP00000444471.1:n.322G>A
ENST00000539154.1:n.766G>A
ENST00000541159.5:c.768G>A	ENSP00000438711.1:p.Glu256=
ENST00000542898.5:c.1494G>A	ENSP00000444615.1:p.Glu498=
ENST00000570511.5:c.955G>A	ENSP00000458312.1:n.955G>A
ENST00000572244.5:c.278-655G>A	ENSP00000461186.1:n.278-655G>A
ENST00000574583.5:c.322G>A	ENSP00000460269.1:n.322G>A
ENST00000576315.5:c.322G>A	ENSP00000460551.1:n.322G>A
ENST00000621655.1:c.768G>A	ENSP00000481436.1:p.Glu256=
XM_017023236.2:c.1398G>A	XP_016878725.1:p.Glu466=
XR_001751903.1:n.1590G>A