Canonical Allele Identifier: CA394488923

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293881T>A (hg19) ; chr16:g.3243881T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243881T>A , CM000678.2:g.3243881T>A	GRCh38
NC_000016.9:g.3293881T>A , CM000678.1:g.3293881T>A	GRCh37
NC_000016.8:g.3233882T>A	NCBI36
NG_007871.1:g.17747A>T , LRG_190:g.17747A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.892A>T
ENST00000219596.6:c.1771A>T MANE Select	ENSP00000219596.1:p.Ile591Phe
ENST00000219596.5:c.1771A>T	ENSP00000219596.1:p.Ile591Phe
ENST00000339854.8:c.1231A>T	ENSP00000339639.4:p.Ile411Phe
ENST00000536379.5:c.1138A>T	ENSP00000445079.1:p.Ile380Phe
ENST00000536980.5:c.*47A>T	ENSP00000444178.1:n.*47A>T
ENST00000537682.5:c.*47A>T	ENSP00000438611.1:n.*47A>T
ENST00000538326.5:c.*396A>T	ENSP00000437486.1:n.*396A>T
ENST00000539145.5:c.692A>T	ENSP00000444471.1:n.692A>T
ENST00000541159.5:c.1313A>T	ENSP00000438711.1:p.Asp438Val
ENST00000542898.5:c.*47A>T	ENSP00000444615.1:n.*47A>T
ENST00000570511.5:c.1176A>T	ENSP00000458312.1:n.1176A>T
ENST00000572244.5:c.461A>T	ENSP00000461186.1:n.461A>T
ENST00000574583.5:c.543A>T	ENSP00000460269.1:n.543A>T
ENST00000576315.5:c.576A>T	ENSP00000460551.1:n.576A>T
ENST00000621655.1:c.1308A>T	ENSP00000481436.1:n.1308A>T
NM_000243.2:c.1771A>T , LRG_190t1:c.1771A>T	NP_000234.1:p.Ile591Phe
NM_001198536.1:c.1313A>T	NP_001185465.1:p.Asp438Val
XM_017023236.2:c.1768A>T	XP_016878725.1:p.Ile590Phe
XR_001751903.1:n.2078A>T
NM_000243.3:c.1771A>T MANE Select	NP_000234.1:p.Ile591Phe
NM_001198536.2:c.1313A>T	NP_001185465.2:p.Asp438Val