Canonical Allele Identifier: CA2202658891

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243891A= , CM000678.2:g.3243891A=	GRCh38
NC_000016.9:g.3293891A= , CM000678.1:g.3293891A=	GRCh37
NC_000016.8:g.3233892A=	NCBI36
NG_007871.1:g.17737T= , LRG_190:g.17737T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.882T=
ENST00000219596.6:c.1761T= MANE Select	ENSP00000219596.1:p.Val587=
ENST00000219596.5:c.1761T=	ENSP00000219596.1:p.Val587=
ENST00000339854.8:c.1221T=	ENSP00000339639.4:p.Val407=
ENST00000536379.5:c.1128T=	ENSP00000445079.1:p.Val376=
ENST00000536980.5:c.*37T=	ENSP00000444178.1:n.*37T=
ENST00000537682.5:c.*37T=	ENSP00000438611.1:n.*37T=
ENST00000538326.5:c.*386T=	ENSP00000437486.1:n.*386T=
ENST00000539145.5:c.682T=	ENSP00000444471.1:n.682T=
ENST00000541159.5:c.1303T=	ENSP00000438711.1:p.Ser435=
ENST00000542898.5:c.*37T=	ENSP00000444615.1:n.*37T=
ENST00000570511.5:c.1166T=	ENSP00000458312.1:n.1166T=
ENST00000572244.5:c.451T=	ENSP00000461186.1:n.451T=
ENST00000574583.5:c.533T=	ENSP00000460269.1:n.533T=
ENST00000576315.5:c.566T=	ENSP00000460551.1:n.566T=
ENST00000621655.1:c.1298T=	ENSP00000481436.1:n.1298T=
NM_000243.2:c.1761T= , LRG_190t1:c.1761T=	NP_000234.1:p.Val587=
NM_001198536.1:c.1303T=	NP_001185465.1:p.Ser435=
XM_017023236.2:c.1758T=	XP_016878725.1:p.Val586=
XR_001751903.1:n.2068T=
NM_000243.3:c.1761T= MANE Select	NP_000234.1:p.Val587=
NM_001198536.2:c.1303T=	NP_001185465.2:p.Ser435=