Canonical Allele Identifier: CA2202658606

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243340T= , CM000678.2:g.3243340T=	GRCh38
NC_000016.9:g.3293340T= , CM000678.1:g.3293340T=	GRCh37
NC_000016.8:g.3233341T=	NCBI36
NG_007871.1:g.18288A= , LRG_190:g.18288A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1268A=
ENST00000219596.6:c.2147A= MANE Select	ENSP00000219596.1:p.Lys716=
ENST00000219596.5:c.2147A=	ENSP00000219596.1:p.Lys716=
ENST00000339854.8:c.1607A=	ENSP00000339639.4:p.Lys536=
ENST00000536379.5:c.1514A=	ENSP00000445079.1:p.Lys505=
ENST00000536980.5:c.*423A=	ENSP00000444178.1:n.*423A=
ENST00000537682.5:c.*423A=	ENSP00000438611.1:n.*423A=
ENST00000538326.5:c.*772A=	ENSP00000437486.1:n.*772A=
ENST00000539145.5:c.1068A=	ENSP00000444471.1:n.1068A=
ENST00000541159.5:c.1689A=	ENSP00000438711.1:n.1689A=
ENST00000542898.5:c.*423A=	ENSP00000444615.1:n.*423A=
ENST00000570511.5:c.1552A=	ENSP00000458312.1:n.1552A=
ENST00000572244.5:c.837A=	ENSP00000461186.1:n.837A=
ENST00000574583.5:c.919A=	ENSP00000460269.1:n.919A=
ENST00000576315.5:c.952A=	ENSP00000460551.1:n.952A=
ENST00000621655.1:c.1684A=	ENSP00000481436.1:n.1684A=
NM_000243.2:c.2147A= , LRG_190t1:c.2147A=	NP_000234.1:p.Lys716=
NM_001198536.1:c.*351A=	NP_001185465.1:n.*351A=
XM_017023236.2:c.2144A=	XP_016878725.1:p.Lys715=
NM_000243.3:c.2147A= MANE Select	NP_000234.1:p.Lys716=
NM_001198536.2:c.*351A=	NP_001185465.2:n.*351A=