Canonical Allele Identifier: CA493383679

Gene: MEFV

Linked Data

• COSMIC: COSM355061
• MyVariant Identifiers: chr16:g.3293336A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243336A>T , CM000678.2:g.3243336A>T	GRCh38
NC_000016.9:g.3293336A>T , CM000678.1:g.3293336A>T	GRCh37
NC_000016.8:g.3233337A>T	NCBI36
NG_007871.1:g.18292T>A , LRG_190:g.18292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1272T>A
ENST00000219596.6:c.2151T>A MANE Select	ENSP00000219596.1:p.Arg717=
ENST00000219596.5:c.2151T>A	ENSP00000219596.1:p.Arg717=
ENST00000339854.8:c.1611T>A	ENSP00000339639.4:p.Arg537=
ENST00000536379.5:c.1518T>A	ENSP00000445079.1:p.Arg506=
ENST00000536980.5:c.*427T>A	ENSP00000444178.1:n.*427T>A
ENST00000537682.5:c.*427T>A	ENSP00000438611.1:n.*427T>A
ENST00000538326.5:c.*776T>A	ENSP00000437486.1:n.*776T>A
ENST00000539145.5:c.1072T>A	ENSP00000444471.1:n.1072T>A
ENST00000541159.5:c.1693T>A	ENSP00000438711.1:n.1693T>A
ENST00000542898.5:c.*427T>A	ENSP00000444615.1:n.*427T>A
ENST00000570511.5:c.1556T>A	ENSP00000458312.1:n.1556T>A
ENST00000572244.5:c.841T>A	ENSP00000461186.1:n.841T>A
ENST00000574583.5:c.923T>A	ENSP00000460269.1:n.923T>A
ENST00000576315.5:c.956T>A	ENSP00000460551.1:n.956T>A
ENST00000621655.1:c.1688T>A	ENSP00000481436.1:n.1688T>A
NM_000243.2:c.2151T>A , LRG_190t1:c.2151T>A	NP_000234.1:p.Arg717=
NM_001198536.1:c.*355T>A	NP_001185465.1:n.*355T>A
XM_017023236.2:c.2148T>A	XP_016878725.1:p.Arg716=
NM_000243.3:c.2151T>A MANE Select	NP_000234.1:p.Arg717=
NM_001198536.2:c.*355T>A	NP_001185465.2:n.*355T>A