Canonical Allele Identifier: CA394485778

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293349T>G (hg19) ; chr16:g.3243349T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243349T>G , CM000678.2:g.3243349T>G	GRCh38
NC_000016.9:g.3293349T>G , CM000678.1:g.3293349T>G	GRCh37
NC_000016.8:g.3233350T>G	NCBI36
NG_007871.1:g.18279A>C , LRG_190:g.18279A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1259A>C
ENST00000219596.6:c.2138A>C MANE Select	ENSP00000219596.1:p.Glu713Ala
ENST00000219596.5:c.2138A>C	ENSP00000219596.1:p.Glu713Ala
ENST00000339854.8:c.1598A>C	ENSP00000339639.4:p.Glu533Ala
ENST00000536379.5:c.1505A>C	ENSP00000445079.1:p.Glu502Ala
ENST00000536980.5:c.*414A>C	ENSP00000444178.1:n.*414A>C
ENST00000537682.5:c.*414A>C	ENSP00000438611.1:n.*414A>C
ENST00000538326.5:c.*763A>C	ENSP00000437486.1:n.*763A>C
ENST00000539145.5:c.1059A>C	ENSP00000444471.1:n.1059A>C
ENST00000541159.5:c.1680A>C	ENSP00000438711.1:n.1680A>C
ENST00000542898.5:c.*414A>C	ENSP00000444615.1:n.*414A>C
ENST00000570511.5:c.1543A>C	ENSP00000458312.1:n.1543A>C
ENST00000572244.5:c.828A>C	ENSP00000461186.1:n.828A>C
ENST00000574583.5:c.910A>C	ENSP00000460269.1:n.910A>C
ENST00000576315.5:c.943A>C	ENSP00000460551.1:n.943A>C
ENST00000621655.1:c.1675A>C	ENSP00000481436.1:n.1675A>C
NM_000243.2:c.2138A>C , LRG_190t1:c.2138A>C	NP_000234.1:p.Glu713Ala
NM_001198536.1:c.*342A>C	NP_001185465.1:n.*342A>C
XM_017023236.2:c.2135A>C	XP_016878725.1:p.Glu712Ala
NM_000243.3:c.2138A>C MANE Select	NP_000234.1:p.Glu713Ala
NM_001198536.2:c.*342A>C	NP_001185465.2:n.*342A>C