Canonical Allele Identifier: CA7859897

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2165408
• ClinVar RCV Id: RCV003089962
• dbSNP Id: rs104895115
• ExAC: 16:3293567 G / A
• gnomAD v2: 16-3293567-G-A
• gnomAD v3: 16-3243567-G-A
• gnomAD v4: 16-3243567-G-A
• MyVariant Identifiers: chr16:g.3293567G>A (hg19) ; chr16:g.3243567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243567G>A , CM000678.2:g.3243567G>A	GRCh38
NC_000016.9:g.3293567G>A , CM000678.1:g.3293567G>A	GRCh37
NC_000016.8:g.3233568G>A	NCBI36
NG_007871.1:g.18061C>T , LRG_190:g.18061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1041C>T
ENST00000219596.6:c.1920C>T MANE Select	ENSP00000219596.1:p.Ile640=
ENST00000219596.5:c.1920C>T	ENSP00000219596.1:p.Ile640=
ENST00000339854.8:c.1380C>T	ENSP00000339639.4:p.Ile460=
ENST00000536379.5:c.1287C>T	ENSP00000445079.1:p.Ile429=
ENST00000536980.5:c.*196C>T	ENSP00000444178.1:n.*196C>T
ENST00000537682.5:c.*196C>T	ENSP00000438611.1:n.*196C>T
ENST00000538326.5:c.*545C>T	ENSP00000437486.1:n.*545C>T
ENST00000539145.5:c.841C>T	ENSP00000444471.1:n.841C>T
ENST00000541159.5:c.1462C>T	ENSP00000438711.1:n.1462C>T
ENST00000542898.5:c.*196C>T	ENSP00000444615.1:n.*196C>T
ENST00000570511.5:c.1325C>T	ENSP00000458312.1:n.1325C>T
ENST00000572244.5:c.610C>T	ENSP00000461186.1:n.610C>T
ENST00000574583.5:c.692C>T	ENSP00000460269.1:n.692C>T
ENST00000576315.5:c.725C>T	ENSP00000460551.1:n.725C>T
ENST00000621655.1:c.1457C>T	ENSP00000481436.1:n.1457C>T
NM_000243.2:c.1920C>T , LRG_190t1:c.1920C>T	NP_000234.1:p.Ile640=
NM_001198536.1:c.*124C>T	NP_001185465.1:n.*124C>T
XM_017023236.2:c.1917C>T	XP_016878725.1:p.Ile639=
NM_000243.3:c.1920C>T MANE Select	NP_000234.1:p.Ile640=
NM_001198536.2:c.*124C>T	NP_001185465.2:n.*124C>T