Canonical Allele Identifier: CA276955063

Gene: MEFV

Linked Data

• ClinVar Variation Id: 888111
• ClinVar RCV Id: RCV001121250
• dbSNP Id: rs1023300125
• gnomAD v2: 16-3293329-T-C
• gnomAD v4: 16-3243329-T-C
• MyVariant Identifiers: chr16:g.3293329T>C (hg19) ; chr16:g.3243329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243329T>C , CM000678.2:g.3243329T>C	GRCh38
NC_000016.9:g.3293329T>C , CM000678.1:g.3293329T>C	GRCh37
NC_000016.8:g.3233330T>C	NCBI36
NG_007871.1:g.18299A>G , LRG_190:g.18299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1279A>G
ENST00000219596.6:c.2158A>G MANE Select	ENSP00000219596.1:p.Ile720Val
ENST00000219596.5:c.2158A>G	ENSP00000219596.1:p.Ile720Val
ENST00000339854.8:c.1618A>G	ENSP00000339639.4:p.Ile540Val
ENST00000536379.5:c.1525A>G	ENSP00000445079.1:p.Ile509Val
ENST00000536980.5:c.*434A>G	ENSP00000444178.1:n.*434A>G
ENST00000537682.5:c.*434A>G	ENSP00000438611.1:n.*434A>G
ENST00000538326.5:c.*783A>G	ENSP00000437486.1:n.*783A>G
ENST00000539145.5:c.1079A>G	ENSP00000444471.1:n.1079A>G
ENST00000541159.5:c.1700A>G	ENSP00000438711.1:n.1700A>G
ENST00000542898.5:c.*434A>G	ENSP00000444615.1:n.*434A>G
ENST00000570511.5:c.1563A>G	ENSP00000458312.1:n.1563A>G
ENST00000572244.5:c.848A>G	ENSP00000461186.1:n.848A>G
ENST00000574583.5:c.930A>G	ENSP00000460269.1:n.930A>G
ENST00000576315.5:c.963A>G	ENSP00000460551.1:n.963A>G
ENST00000621655.1:c.1695A>G	ENSP00000481436.1:n.1695A>G
NM_000243.2:c.2158A>G , LRG_190t1:c.2158A>G	NP_000234.1:p.Ile720Val
NM_001198536.1:c.*362A>G	NP_001185465.1:n.*362A>G
XM_017023236.2:c.2155A>G	XP_016878725.1:p.Ile719Val
NM_000243.3:c.2158A>G MANE Select	NP_000234.1:p.Ile720Val
NM_001198536.2:c.*362A>G	NP_001185465.2:n.*362A>G