Canonical Allele Identifier: CA2202660645

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247175T= , CM000678.2:g.3247175T=	GRCh38
NC_000016.9:g.3297175T= , CM000678.1:g.3297175T=	GRCh37
NC_000016.8:g.3237176T=	NCBI36
NG_007871.1:g.14453A= , LRG_190:g.14453A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1428A= MANE Select	ENSP00000219596.1:p.Gln476=
ENST00000219596.5:c.1428A=	ENSP00000219596.1:p.Gln476=
ENST00000339854.8:c.888A=	ENSP00000339639.4:p.Gln296=
ENST00000536379.5:c.795A=	ENSP00000445079.1:p.Gln265=
ENST00000536980.5:c.795A=	ENSP00000444178.1:p.Gln265=
ENST00000537682.5:c.1428A=	ENSP00000438611.1:p.Gln476=
ENST00000538326.5:c.*53A=	ENSP00000437486.1:n.*53A=
ENST00000539145.5:c.349A=	ENSP00000444471.1:n.349A=
ENST00000539154.1:n.793A=
ENST00000541159.5:c.795A=	ENSP00000438711.1:p.Gln265=
ENST00000542898.5:c.1521A=	ENSP00000444615.1:p.Gln507=
ENST00000570511.5:c.982A=	ENSP00000458312.1:n.982A=
ENST00000572244.5:c.278-628A=	ENSP00000461186.1:n.278-628A=
ENST00000574583.5:c.349A=	ENSP00000460269.1:n.349A=
ENST00000576315.5:c.349A=	ENSP00000460551.1:n.349A=
ENST00000621655.1:c.795A=	ENSP00000481436.1:p.Gln265=
NM_000243.2:c.1428A= , LRG_190t1:c.1428A=	NP_000234.1:p.Gln476=
NM_001198536.1:c.795A=	NP_001185465.1:p.Gln265=
XM_017023236.2:c.1425A=	XP_016878725.1:p.Gln475=
XR_001751903.1:n.1617A=
NM_000243.3:c.1428A= MANE Select	NP_000234.1:p.Gln476=
NM_001198536.2:c.795A=	NP_001185465.2:p.Gln265=