Canonical Allele Identifier: CA7860107

Gene: MEFV

Linked Data

• ClinVar Variation Id: 646921
• ClinVar RCV Id: RCV000801307 ; RCV001193207 ; RCV002501072 ; RCV003126939 ; RCV003126940
• dbSNP Id: rs144270019
• ExAC: 16:3297071 G / A
• gnomAD v2: 16-3297071-G-A
• gnomAD v3: 16-3247071-G-A
• gnomAD v4: 16-3247071-G-A
• MyVariant Identifiers: chr16:g.3297071G>A (hg19) ; chr16:g.3247071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247071G>A , CM000678.2:g.3247071G>A	GRCh38
NC_000016.9:g.3297071G>A , CM000678.1:g.3297071G>A	GRCh37
NC_000016.8:g.3237072G>A	NCBI36
NG_007871.1:g.14557C>T , LRG_190:g.14557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1532C>T MANE Select	ENSP00000219596.1:p.Ala511Val
ENST00000219596.5:c.1532C>T	ENSP00000219596.1:p.Ala511Val
ENST00000339854.8:c.992C>T	ENSP00000339639.4:p.Ala331Val
ENST00000536379.5:c.899C>T	ENSP00000445079.1:p.Ala300Val
ENST00000536980.5:c.899C>T	ENSP00000444178.1:p.Ala300Val
ENST00000537682.5:c.1532C>T	ENSP00000438611.1:p.Ala511Val
ENST00000538326.5:c.*157C>T	ENSP00000437486.1:n.*157C>T
ENST00000539145.5:c.453C>T	ENSP00000444471.1:n.453C>T
ENST00000539154.1:n.897C>T
ENST00000541159.5:c.899C>T	ENSP00000438711.1:p.Ala300Val
ENST00000542898.5:c.1625C>T	ENSP00000444615.1:p.Ala542Val
ENST00000570511.5:c.1086C>T	ENSP00000458312.1:n.1086C>T
ENST00000572244.5:c.278-524C>T	ENSP00000461186.1:n.278-524C>T
ENST00000574583.5:c.453C>T	ENSP00000460269.1:n.453C>T
ENST00000576315.5:c.453C>T	ENSP00000460551.1:n.453C>T
ENST00000621655.1:c.899C>T	ENSP00000481436.1:p.Ala300Val
NM_000243.2:c.1532C>T , LRG_190t1:c.1532C>T	NP_000234.1:p.Ala511Val
NM_001198536.1:c.899C>T	NP_001185465.1:p.Ala300Val
XM_017023236.2:c.1529C>T	XP_016878725.1:p.Ala510Val
XR_001751903.1:n.1721C>T
NM_000243.3:c.1532C>T MANE Select	NP_000234.1:p.Ala511Val
NM_001198536.2:c.899C>T	NP_001185465.2:p.Ala300Val