Canonical Allele Identifier: CA7859885

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243491T>A , CM000678.2:g.3243491T>A	GRCh38
NC_000016.9:g.3293491T>A , CM000678.1:g.3293491T>A	GRCh37
NC_000016.8:g.3233492T>A	NCBI36
NG_007871.1:g.18137A>T , LRG_190:g.18137A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1996A>T MANE Select	NP_000234.1:p.Ile666Phe
ENST00000219596.6:c.1996A>T MANE Select	ENSP00000219596.1:p.Ile666Phe
NM_000243.2:c.1996A>T , LRG_190t1:c.1996A>T	NP_000234.1:p.Ile666Phe
NM_001198536.1:c.*200A>T	NP_001185465.1:n.*200A>T
NM_001198536.2:c.*200A>T	NP_001185465.2:n.*200A>T
ENST00000219596.5:c.1996A>T	ENSP00000219596.1:p.Ile666Phe
ENST00000339854.8:c.1456A>T	ENSP00000339639.4:p.Ile486Phe
ENST00000536379.5:c.1363A>T	ENSP00000445079.1:p.Ile455Phe
ENST00000536980.5:c.*272A>T	ENSP00000444178.1:n.*272A>T
ENST00000537682.5:c.*272A>T	ENSP00000438611.1:n.*272A>T
ENST00000538326.5:c.*621A>T	ENSP00000437486.1:n.*621A>T
ENST00000539145.5:c.917A>T	ENSP00000444471.1:n.917A>T
ENST00000541159.5:c.1538A>T	ENSP00000438711.1:n.1538A>T
ENST00000542898.5:c.*272A>T	ENSP00000444615.1:n.*272A>T
ENST00000570511.5:c.1401A>T	ENSP00000458312.1:n.1401A>T
ENST00000572244.5:c.686A>T	ENSP00000461186.1:n.686A>T
ENST00000574583.5:c.768A>T	ENSP00000460269.1:n.768A>T
ENST00000576315.5:c.801A>T	ENSP00000460551.1:n.801A>T
ENST00000621655.1:c.1533A>T	ENSP00000481436.1:n.1533A>T
ENST00000697124.1:n.1117A>T
XM_017023236.2:c.1993A>T	XP_016878725.1:p.Ile665Phe