Canonical Allele Identifier: CA7859868

Gene: MEFV

Linked Data

• ClinVar Variation Id: 234366
• ClinVar RCV Id: RCV000218313 ; RCV000795673 ; RCV001328382 ; RCV003126631 ; RCV003126632
• dbSNP Id: rs746092199
• ExAC: 16:3293341 T / C
• gnomAD v2: 16-3293341-T-C
• gnomAD v3: 16-3243341-T-C
• gnomAD v4: 16-3243341-T-C
• COSMIC: COSM4748893
• MyVariant Identifiers: chr16:g.3293341T>C (hg19) ; chr16:g.3243341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243341T>C , CM000678.2:g.3243341T>C	GRCh38
NC_000016.9:g.3293341T>C , CM000678.1:g.3293341T>C	GRCh37
NC_000016.8:g.3233342T>C	NCBI36
NG_007871.1:g.18287A>G , LRG_190:g.18287A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1267A>G
ENST00000219596.6:c.2146A>G MANE Select	ENSP00000219596.1:p.Lys716Glu
ENST00000219596.5:c.2146A>G	ENSP00000219596.1:p.Lys716Glu
ENST00000339854.8:c.1606A>G	ENSP00000339639.4:p.Lys536Glu
ENST00000536379.5:c.1513A>G	ENSP00000445079.1:p.Lys505Glu
ENST00000536980.5:c.*422A>G	ENSP00000444178.1:n.*422A>G
ENST00000537682.5:c.*422A>G	ENSP00000438611.1:n.*422A>G
ENST00000538326.5:c.*771A>G	ENSP00000437486.1:n.*771A>G
ENST00000539145.5:c.1067A>G	ENSP00000444471.1:n.1067A>G
ENST00000541159.5:c.1688A>G	ENSP00000438711.1:n.1688A>G
ENST00000542898.5:c.*422A>G	ENSP00000444615.1:n.*422A>G
ENST00000570511.5:c.1551A>G	ENSP00000458312.1:n.1551A>G
ENST00000572244.5:c.836A>G	ENSP00000461186.1:n.836A>G
ENST00000574583.5:c.918A>G	ENSP00000460269.1:n.918A>G
ENST00000576315.5:c.951A>G	ENSP00000460551.1:n.951A>G
ENST00000621655.1:c.1683A>G	ENSP00000481436.1:n.1683A>G
NM_000243.2:c.2146A>G , LRG_190t1:c.2146A>G	NP_000234.1:p.Lys716Glu
NM_001198536.1:c.*350A>G	NP_001185465.1:n.*350A>G
XM_017023236.2:c.2143A>G	XP_016878725.1:p.Lys715Glu
NM_000243.3:c.2146A>G MANE Select	NP_000234.1:p.Lys716Glu
NM_001198536.2:c.*350A>G	NP_001185465.2:n.*350A>G