Canonical Allele Identifier: CA394487036

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293490A>T (hg19) ; chr16:g.3243490A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243490A>T , CM000678.2:g.3243490A>T	GRCh38
NC_000016.9:g.3293490A>T , CM000678.1:g.3293490A>T	GRCh37
NC_000016.8:g.3233491A>T	NCBI36
NG_007871.1:g.18138T>A , LRG_190:g.18138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1118T>A
ENST00000219596.6:c.1997T>A MANE Select	ENSP00000219596.1:p.Ile666Asn
ENST00000219596.5:c.1997T>A	ENSP00000219596.1:p.Ile666Asn
ENST00000339854.8:c.1457T>A	ENSP00000339639.4:p.Ile486Asn
ENST00000536379.5:c.1364T>A	ENSP00000445079.1:p.Ile455Asn
ENST00000536980.5:c.*273T>A	ENSP00000444178.1:n.*273T>A
ENST00000537682.5:c.*273T>A	ENSP00000438611.1:n.*273T>A
ENST00000538326.5:c.*622T>A	ENSP00000437486.1:n.*622T>A
ENST00000539145.5:c.918T>A	ENSP00000444471.1:n.918T>A
ENST00000541159.5:c.1539T>A	ENSP00000438711.1:n.1539T>A
ENST00000542898.5:c.*273T>A	ENSP00000444615.1:n.*273T>A
ENST00000570511.5:c.1402T>A	ENSP00000458312.1:n.1402T>A
ENST00000572244.5:c.687T>A	ENSP00000461186.1:n.687T>A
ENST00000574583.5:c.769T>A	ENSP00000460269.1:n.769T>A
ENST00000576315.5:c.802T>A	ENSP00000460551.1:n.802T>A
ENST00000621655.1:c.1534T>A	ENSP00000481436.1:n.1534T>A
NM_000243.2:c.1997T>A , LRG_190t1:c.1997T>A	NP_000234.1:p.Ile666Asn
NM_001198536.1:c.*201T>A	NP_001185465.1:n.*201T>A
XM_017023236.2:c.1994T>A	XP_016878725.1:p.Ile665Asn
NM_000243.3:c.1997T>A MANE Select	NP_000234.1:p.Ile666Asn
NM_001198536.2:c.*201T>A	NP_001185465.2:n.*201T>A