Canonical Allele Identifier: CA394485829

Gene: MEFV

Linked Data

• dbSNP Id: rs1958887344
• MyVariant Identifiers: chr16:g.3293358A>G (hg19) ; chr16:g.3243358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243358A>G , CM000678.2:g.3243358A>G	GRCh38
NC_000016.9:g.3293358A>G , CM000678.1:g.3293358A>G	GRCh37
NC_000016.8:g.3233359A>G	NCBI36
NG_007871.1:g.18270T>C , LRG_190:g.18270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1250T>C
ENST00000219596.6:c.2129T>C MANE Select	ENSP00000219596.1:p.Leu710Pro
ENST00000219596.5:c.2129T>C	ENSP00000219596.1:p.Leu710Pro
ENST00000339854.8:c.1589T>C	ENSP00000339639.4:p.Leu530Pro
ENST00000536379.5:c.1496T>C	ENSP00000445079.1:p.Leu499Pro
ENST00000536980.5:c.*405T>C	ENSP00000444178.1:n.*405T>C
ENST00000537682.5:c.*405T>C	ENSP00000438611.1:n.*405T>C
ENST00000538326.5:c.*754T>C	ENSP00000437486.1:n.*754T>C
ENST00000539145.5:c.1050T>C	ENSP00000444471.1:n.1050T>C
ENST00000541159.5:c.1671T>C	ENSP00000438711.1:n.1671T>C
ENST00000542898.5:c.*405T>C	ENSP00000444615.1:n.*405T>C
ENST00000570511.5:c.1534T>C	ENSP00000458312.1:n.1534T>C
ENST00000572244.5:c.819T>C	ENSP00000461186.1:n.819T>C
ENST00000574583.5:c.901T>C	ENSP00000460269.1:n.901T>C
ENST00000576315.5:c.934T>C	ENSP00000460551.1:n.934T>C
ENST00000621655.1:c.1666T>C	ENSP00000481436.1:n.1666T>C
NM_000243.2:c.2129T>C , LRG_190t1:c.2129T>C	NP_000234.1:p.Leu710Pro
NM_001198536.1:c.*333T>C	NP_001185465.1:n.*333T>C
XM_017023236.2:c.2126T>C	XP_016878725.1:p.Leu709Pro
NM_000243.3:c.2129T>C MANE Select	NP_000234.1:p.Leu710Pro
NM_001198536.2:c.*333T>C	NP_001185465.2:n.*333T>C