Canonical Allele Identifier: CA2202659245

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244540T= , CM000678.2:g.3244540T=	GRCh38
NC_000016.9:g.3294540T= , CM000678.1:g.3294540T=	GRCh37
NC_000016.8:g.3234541T=	NCBI36
NG_007871.1:g.17088A= , LRG_190:g.17088A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.780A=
ENST00000219596.6:c.1659A= MANE Select	ENSP00000219596.1:p.Ile553=
ENST00000219596.5:c.1659A=	ENSP00000219596.1:p.Ile553=
ENST00000339854.8:c.1119A=	ENSP00000339639.4:p.Ile373=
ENST00000536379.5:c.1026A=	ENSP00000445079.1:p.Ile342=
ENST00000536980.5:c.1026A=	ENSP00000444178.1:p.Ile342=
ENST00000537682.5:c.1659A=	ENSP00000438611.1:p.Ile553=
ENST00000538326.5:c.*284A=	ENSP00000437486.1:n.*284A=
ENST00000539145.5:c.580A=	ENSP00000444471.1:n.580A=
ENST00000541159.5:c.1026A=	ENSP00000438711.1:p.Ile342=
ENST00000542898.5:c.1752A=	ENSP00000444615.1:p.Ile584=
ENST00000570511.5:c.1165-648A=	ENSP00000458312.1:n.1165-648A=
ENST00000572244.5:c.349A=	ENSP00000461186.1:n.349A=
ENST00000574583.5:c.532-648A=	ENSP00000460269.1:n.532-648A=
ENST00000576315.5:c.532-254A=	ENSP00000460551.1:n.532-254A=
ENST00000621655.1:c.1026A=	ENSP00000481436.1:p.Ile342=
NM_000243.2:c.1659A= , LRG_190t1:c.1659A=	NP_000234.1:p.Ile553=
NM_001198536.1:c.1026A=	NP_001185465.1:p.Ile342=
XM_017023236.2:c.1656A=	XP_016878725.1:p.Ile552=
XR_001751903.1:n.1848A=
NM_000243.3:c.1659A= MANE Select	NP_000234.1:p.Ile553=
NM_001198536.2:c.1026A=	NP_001185465.2:p.Ile342=