Canonical Allele Identifier: CA394486026

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293394T>A (hg19) ; chr16:g.3243394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243394T>A , CM000678.2:g.3243394T>A	GRCh38
NC_000016.9:g.3293394T>A , CM000678.1:g.3293394T>A	GRCh37
NC_000016.8:g.3233395T>A	NCBI36
NG_007871.1:g.18234A>T , LRG_190:g.18234A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1214A>T
ENST00000219596.6:c.2093A>T MANE Select	ENSP00000219596.1:p.Glu698Val
ENST00000219596.5:c.2093A>T	ENSP00000219596.1:p.Glu698Val
ENST00000339854.8:c.1553A>T	ENSP00000339639.4:p.Glu518Val
ENST00000536379.5:c.1460A>T	ENSP00000445079.1:p.Glu487Val
ENST00000536980.5:c.*369A>T	ENSP00000444178.1:n.*369A>T
ENST00000537682.5:c.*369A>T	ENSP00000438611.1:n.*369A>T
ENST00000538326.5:c.*718A>T	ENSP00000437486.1:n.*718A>T
ENST00000539145.5:c.1014A>T	ENSP00000444471.1:n.1014A>T
ENST00000541159.5:c.1635A>T	ENSP00000438711.1:n.1635A>T
ENST00000542898.5:c.*369A>T	ENSP00000444615.1:n.*369A>T
ENST00000570511.5:c.1498A>T	ENSP00000458312.1:n.1498A>T
ENST00000572244.5:c.783A>T	ENSP00000461186.1:n.783A>T
ENST00000574583.5:c.865A>T	ENSP00000460269.1:n.865A>T
ENST00000576315.5:c.898A>T	ENSP00000460551.1:n.898A>T
ENST00000621655.1:c.1630A>T	ENSP00000481436.1:n.1630A>T
NM_000243.2:c.2093A>T , LRG_190t1:c.2093A>T	NP_000234.1:p.Glu698Val
NM_001198536.1:c.*297A>T	NP_001185465.1:n.*297A>T
XM_017023236.2:c.2090A>T	XP_016878725.1:p.Glu697Val
NM_000243.3:c.2093A>T MANE Select	NP_000234.1:p.Glu698Val
NM_001198536.2:c.*297A>T	NP_001185465.2:n.*297A>T