Canonical Allele Identifier: CA493257914

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2883357
• ClinVar RCV Id: RCV003606641
• dbSNP Id: rs1404914694
• gnomAD v2: 16-3293204-A-G
• gnomAD v4: 16-3243204-A-G
• MyVariant Identifiers: chr16:g.3293204A>G (hg19) ; chr16:g.3243204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243204A>G , CM000678.2:g.3243204A>G	GRCh38
NC_000016.9:g.3293204A>G , CM000678.1:g.3293204A>G	GRCh37
NC_000016.8:g.3233205A>G	NCBI36
NG_007871.1:g.18424T>C , LRG_190:g.18424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1404T>C
ENST00000219596.6:c.2283T>C MANE Select	ENSP00000219596.1:p.Arg761=
ENST00000219596.5:c.2283T>C	ENSP00000219596.1:p.Arg761=
ENST00000339854.8:c.1743T>C	ENSP00000339639.4:p.Arg581=
ENST00000536379.5:c.1650T>C	ENSP00000445079.1:p.Arg550=
ENST00000536980.5:c.*559T>C	ENSP00000444178.1:n.*559T>C
ENST00000537682.5:c.*559T>C	ENSP00000438611.1:n.*559T>C
ENST00000538326.5:c.*908T>C	ENSP00000437486.1:n.*908T>C
ENST00000539145.5:c.1204T>C	ENSP00000444471.1:n.1204T>C
ENST00000541159.5:c.1825T>C	ENSP00000438711.1:n.1825T>C
ENST00000542898.5:c.*559T>C	ENSP00000444615.1:n.*559T>C
ENST00000570511.5:c.1688T>C	ENSP00000458312.1:n.1688T>C
ENST00000572244.5:c.973T>C	ENSP00000461186.1:n.973T>C
ENST00000574583.5:c.1055T>C	ENSP00000460269.1:n.1055T>C
ENST00000576315.5:c.1088T>C	ENSP00000460551.1:n.1088T>C
ENST00000621655.1:c.1820T>C	ENSP00000481436.1:n.1820T>C
NM_000243.2:c.2283T>C , LRG_190t1:c.2283T>C	NP_000234.1:p.Arg761=
NM_001198536.1:c.*487T>C	NP_001185465.1:n.*487T>C
XM_017023236.2:c.2280T>C	XP_016878725.1:p.Arg760=
NM_000243.3:c.2283T>C MANE Select	NP_000234.1:p.Arg761=
NM_001198536.2:c.*487T>C	NP_001185465.2:n.*487T>C