Canonical Allele Identifier: CA394458151

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294506C>T (hg19) ; chr16:g.3244506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244506C>T , CM000678.2:g.3244506C>T	GRCh38
NC_000016.9:g.3294506C>T , CM000678.1:g.3294506C>T	GRCh37
NC_000016.8:g.3234507C>T	NCBI36
NG_007871.1:g.17122G>A , LRG_190:g.17122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.814G>A
ENST00000219596.6:c.1693G>A MANE Select	ENSP00000219596.1:p.Glu565Lys
ENST00000219596.5:c.1693G>A	ENSP00000219596.1:p.Glu565Lys
ENST00000339854.8:c.1153G>A	ENSP00000339639.4:p.Glu385Lys
ENST00000536379.5:c.1060G>A	ENSP00000445079.1:p.Glu354Lys
ENST00000536980.5:c.1060G>A	ENSP00000444178.1:p.Glu354Lys
ENST00000537682.5:c.1693G>A	ENSP00000438611.1:p.Glu565Lys
ENST00000538326.5:c.*318G>A	ENSP00000437486.1:n.*318G>A
ENST00000539145.5:c.614G>A	ENSP00000444471.1:n.614G>A
ENST00000541159.5:c.1060G>A	ENSP00000438711.1:p.Glu354Lys
ENST00000542898.5:c.1786G>A	ENSP00000444615.1:p.Glu596Lys
ENST00000570511.5:c.1165-614G>A	ENSP00000458312.1:n.1165-614G>A
ENST00000572244.5:c.383G>A	ENSP00000461186.1:n.383G>A
ENST00000574583.5:c.532-614G>A	ENSP00000460269.1:n.532-614G>A
ENST00000576315.5:c.532-220G>A	ENSP00000460551.1:n.532-220G>A
ENST00000621655.1:c.1060G>A	ENSP00000481436.1:p.Glu354Lys
NM_000243.2:c.1693G>A , LRG_190t1:c.1693G>A	NP_000234.1:p.Glu565Lys
NM_001198536.1:c.1060G>A	NP_001185465.1:p.Glu354Lys
XM_017023236.2:c.1690G>A	XP_016878725.1:p.Glu564Lys
XR_001751903.1:n.1882G>A
NM_000243.3:c.1693G>A MANE Select	NP_000234.1:p.Glu565Lys
NM_001198536.2:c.1060G>A	NP_001185465.2:p.Glu354Lys