Canonical Allele Identifier: CA394486054

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293399T>G (hg19) ; chr16:g.3243399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243399T>G , CM000678.2:g.3243399T>G	GRCh38
NC_000016.9:g.3293399T>G , CM000678.1:g.3293399T>G	GRCh37
NC_000016.8:g.3233400T>G	NCBI36
NG_007871.1:g.18229A>C , LRG_190:g.18229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1209A>C
ENST00000219596.6:c.2088A>C MANE Select	ENSP00000219596.1:p.Glu696Asp
ENST00000219596.5:c.2088A>C	ENSP00000219596.1:p.Glu696Asp
ENST00000339854.8:c.1548A>C	ENSP00000339639.4:p.Glu516Asp
ENST00000536379.5:c.1455A>C	ENSP00000445079.1:p.Glu485Asp
ENST00000536980.5:c.*364A>C	ENSP00000444178.1:n.*364A>C
ENST00000537682.5:c.*364A>C	ENSP00000438611.1:n.*364A>C
ENST00000538326.5:c.*713A>C	ENSP00000437486.1:n.*713A>C
ENST00000539145.5:c.1009A>C	ENSP00000444471.1:n.1009A>C
ENST00000541159.5:c.1630A>C	ENSP00000438711.1:n.1630A>C
ENST00000542898.5:c.*364A>C	ENSP00000444615.1:n.*364A>C
ENST00000570511.5:c.1493A>C	ENSP00000458312.1:n.1493A>C
ENST00000572244.5:c.778A>C	ENSP00000461186.1:n.778A>C
ENST00000574583.5:c.860A>C	ENSP00000460269.1:n.860A>C
ENST00000576315.5:c.893A>C	ENSP00000460551.1:n.893A>C
ENST00000621655.1:c.1625A>C	ENSP00000481436.1:n.1625A>C
NM_000243.2:c.2088A>C , LRG_190t1:c.2088A>C	NP_000234.1:p.Glu696Asp
NM_001198536.1:c.*292A>C	NP_001185465.1:n.*292A>C
XM_017023236.2:c.2085A>C	XP_016878725.1:p.Glu695Asp
NM_000243.3:c.2088A>C MANE Select	NP_000234.1:p.Glu696Asp
NM_001198536.2:c.*292A>C	NP_001185465.2:n.*292A>C