Canonical Allele Identifier: CA493383848

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1660827
• ClinVar RCV Id: RCV002176234
• dbSNP Id: rs2141669188
• MyVariant Identifiers: chr16:g.3297187G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247187G>A , CM000678.2:g.3247187G>A	GRCh38
NC_000016.9:g.3297187G>A , CM000678.1:g.3297187G>A	GRCh37
NC_000016.8:g.3237188G>A	NCBI36
NG_007871.1:g.14441C>T , LRG_190:g.14441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1416C>T MANE Select	ENSP00000219596.1:p.Phe472=
ENST00000219596.5:c.1416C>T	ENSP00000219596.1:p.Phe472=
ENST00000339854.8:c.876C>T	ENSP00000339639.4:p.Phe292=
ENST00000536379.5:c.783C>T	ENSP00000445079.1:p.Phe261=
ENST00000536980.5:c.783C>T	ENSP00000444178.1:p.Phe261=
ENST00000537682.5:c.1416C>T	ENSP00000438611.1:p.Phe472=
ENST00000538326.5:c.*41C>T	ENSP00000437486.1:n.*41C>T
ENST00000539145.5:c.337C>T	ENSP00000444471.1:n.337C>T
ENST00000539154.1:n.781C>T
ENST00000541159.5:c.783C>T	ENSP00000438711.1:p.Phe261=
ENST00000542898.5:c.1509C>T	ENSP00000444615.1:p.Phe503=
ENST00000570511.5:c.970C>T	ENSP00000458312.1:n.970C>T
ENST00000572244.5:c.278-640C>T	ENSP00000461186.1:n.278-640C>T
ENST00000574583.5:c.337C>T	ENSP00000460269.1:n.337C>T
ENST00000576315.5:c.337C>T	ENSP00000460551.1:n.337C>T
ENST00000621655.1:c.783C>T	ENSP00000481436.1:p.Phe261=
NM_000243.2:c.1416C>T , LRG_190t1:c.1416C>T	NP_000234.1:p.Phe472=
NM_001198536.1:c.783C>T	NP_001185465.1:p.Phe261=
XM_017023236.2:c.1413C>T	XP_016878725.1:p.Phe471=
XR_001751903.1:n.1605C>T
NM_000243.3:c.1416C>T MANE Select	NP_000234.1:p.Phe472=
NM_001198536.2:c.783C>T	NP_001185465.2:p.Phe261=