Canonical Allele Identifier: CA7859853

Gene: MEFV

Linked Data

• dbSNP Id: rs139092123
• ExAC: 16:3293277 C / A
• gnomAD v2: 16-3293277-C-A
• gnomAD v3: 16-3243277-C-A
• gnomAD v4: 16-3243277-C-A
• MyVariant Identifiers: chr16:g.3293277C>A (hg19) ; chr16:g.3243277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243277C>A , CM000678.2:g.3243277C>A	GRCh38
NC_000016.9:g.3293277C>A , CM000678.1:g.3293277C>A	GRCh37
NC_000016.8:g.3233278C>A	NCBI36
NG_007871.1:g.18351G>T , LRG_190:g.18351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1331G>T
ENST00000219596.6:c.2210G>T MANE Select	ENSP00000219596.1:p.Arg737Ile
ENST00000219596.5:c.2210G>T	ENSP00000219596.1:p.Arg737Ile
ENST00000339854.8:c.1670G>T	ENSP00000339639.4:p.Arg557Ile
ENST00000536379.5:c.1577G>T	ENSP00000445079.1:p.Arg526Ile
ENST00000536980.5:c.*486G>T	ENSP00000444178.1:n.*486G>T
ENST00000537682.5:c.*486G>T	ENSP00000438611.1:n.*486G>T
ENST00000538326.5:c.*835G>T	ENSP00000437486.1:n.*835G>T
ENST00000539145.5:c.1131G>T	ENSP00000444471.1:n.1131G>T
ENST00000541159.5:c.1752G>T	ENSP00000438711.1:n.1752G>T
ENST00000542898.5:c.*486G>T	ENSP00000444615.1:n.*486G>T
ENST00000570511.5:c.1615G>T	ENSP00000458312.1:n.1615G>T
ENST00000572244.5:c.900G>T	ENSP00000461186.1:n.900G>T
ENST00000574583.5:c.982G>T	ENSP00000460269.1:n.982G>T
ENST00000576315.5:c.1015G>T	ENSP00000460551.1:n.1015G>T
ENST00000621655.1:c.1747G>T	ENSP00000481436.1:n.1747G>T
NM_000243.2:c.2210G>T , LRG_190t1:c.2210G>T	NP_000234.1:p.Arg737Ile
NM_001198536.1:c.*414G>T	NP_001185465.1:n.*414G>T
XM_017023236.2:c.2207G>T	XP_016878725.1:p.Arg736Ile
NM_000243.3:c.2210G>T MANE Select	NP_000234.1:p.Arg737Ile
NM_001198536.2:c.*414G>T	NP_001185465.2:n.*414G>T