Canonical Allele Identifier: CA394485805

Gene: MEFV

Linked Data

• dbSNP Id: rs1355954520
• MyVariant Identifiers: chr16:g.3293354T>C (hg19) ; chr16:g.3243354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243354T>C , CM000678.2:g.3243354T>C	GRCh38
NC_000016.9:g.3293354T>C , CM000678.1:g.3293354T>C	GRCh37
NC_000016.8:g.3233355T>C	NCBI36
NG_007871.1:g.18274A>G , LRG_190:g.18274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1254A>G
ENST00000219596.6:c.2133A>G MANE Select	ENSP00000219596.1:p.Ile711Met
ENST00000219596.5:c.2133A>G	ENSP00000219596.1:p.Ile711Met
ENST00000339854.8:c.1593A>G	ENSP00000339639.4:p.Ile531Met
ENST00000536379.5:c.1500A>G	ENSP00000445079.1:p.Ile500Met
ENST00000536980.5:c.*409A>G	ENSP00000444178.1:n.*409A>G
ENST00000537682.5:c.*409A>G	ENSP00000438611.1:n.*409A>G
ENST00000538326.5:c.*758A>G	ENSP00000437486.1:n.*758A>G
ENST00000539145.5:c.1054A>G	ENSP00000444471.1:n.1054A>G
ENST00000541159.5:c.1675A>G	ENSP00000438711.1:n.1675A>G
ENST00000542898.5:c.*409A>G	ENSP00000444615.1:n.*409A>G
ENST00000570511.5:c.1538A>G	ENSP00000458312.1:n.1538A>G
ENST00000572244.5:c.823A>G	ENSP00000461186.1:n.823A>G
ENST00000574583.5:c.905A>G	ENSP00000460269.1:n.905A>G
ENST00000576315.5:c.938A>G	ENSP00000460551.1:n.938A>G
ENST00000621655.1:c.1670A>G	ENSP00000481436.1:n.1670A>G
NM_000243.2:c.2133A>G , LRG_190t1:c.2133A>G	NP_000234.1:p.Ile711Met
NM_001198536.1:c.*337A>G	NP_001185465.1:n.*337A>G
XM_017023236.2:c.2130A>G	XP_016878725.1:p.Ile710Met
NM_000243.3:c.2133A>G MANE Select	NP_000234.1:p.Ile711Met
NM_001198536.2:c.*337A>G	NP_001185465.2:n.*337A>G