Canonical Allele Identifier: CA7860180

Gene: MEFV

Linked Data

• ClinVar Variation Id: 234502
• ClinVar RCV Id: RCV000219419 ; RCV000632789 ; RCV002262826 ; RCV003126637 ; RCV002478821 ; RCV003126638
• dbSNP Id: rs749651486
• ExAC: 16:3298928 T / G
• gnomAD v2: 16-3298928-T-G
• gnomAD v3: 16-3248928-T-G
• gnomAD v4: 16-3248928-T-G
• MyVariant Identifiers: chr16:g.3298928T>G (hg19) ; chr16:g.3248928T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3248928T>G , CM000678.2:g.3248928T>G	GRCh38
NC_000016.9:g.3298928T>G , CM000678.1:g.3298928T>G	GRCh37
NC_000016.8:g.3238929T>G	NCBI36
NG_007871.1:g.12700A>C , LRG_190:g.12700A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1337A>C MANE Select	ENSP00000219596.1:p.Glu446Ala
ENST00000219596.5:c.1337A>C	ENSP00000219596.1:p.Glu446Ala
ENST00000339854.8:c.797A>C	ENSP00000339639.4:p.Glu266Ala
ENST00000536379.5:c.704A>C	ENSP00000445079.1:p.Glu235Ala
ENST00000536980.5:c.704A>C	ENSP00000444178.1:p.Glu235Ala
ENST00000537682.5:c.1337A>C	ENSP00000438611.1:p.Glu446Ala
ENST00000538326.5:c.1337A>C	ENSP00000437486.1:p.Glu446Ala
ENST00000539145.5:c.278-1682A>C	ENSP00000444471.1:n.278-1682A>C
ENST00000541159.5:c.704A>C	ENSP00000438711.1:p.Glu235Ala
ENST00000542898.5:c.1430A>C	ENSP00000444615.1:p.Glu477Ala
ENST00000570511.5:c.911-1682A>C	ENSP00000458312.1:n.911-1682A>C
ENST00000572244.5:c.278-2381A>C	ENSP00000461186.1:n.278-2381A>C
ENST00000574583.5:c.278-1682A>C	ENSP00000460269.1:n.278-1682A>C
ENST00000576315.5:c.278-1682A>C	ENSP00000460551.1:n.278-1682A>C
ENST00000621655.1:c.704A>C	ENSP00000481436.1:p.Glu235Ala
NM_000243.2:c.1337A>C , LRG_190t1:c.1337A>C	NP_000234.1:p.Glu446Ala
NM_001198536.1:c.704A>C	NP_001185465.1:p.Glu235Ala
XM_017023236.2:c.1334A>C	XP_016878725.1:p.Glu445Ala
XR_001751903.1:n.1526A>C
NM_000243.3:c.1337A>C MANE Select	NP_000234.1:p.Glu446Ala
NM_001198536.2:c.704A>C	NP_001185465.2:p.Glu235Ala