Canonical Allele Identifier: CA7859926

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243870C>T , CM000678.2:g.3243870C>T	GRCh38
NC_000016.9:g.3293870C>T , CM000678.1:g.3293870C>T	GRCh37
NC_000016.8:g.3233871C>T	NCBI36
NG_007871.1:g.17758G>A , LRG_190:g.17758G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1782G>A MANE Select	NP_000234.1:p.Gln594=
ENST00000219596.6:c.1782G>A MANE Select	ENSP00000219596.1:p.Gln594=
NM_000243.2:c.1782G>A , LRG_190t1:c.1782G>A	NP_000234.1:p.Gln594=
NM_001198536.1:c.1324G>A	NP_001185465.1:p.Gly442Ser
NM_001198536.2:c.1324G>A	NP_001185465.2:p.Gly442Ser
ENST00000219596.5:c.1782G>A	ENSP00000219596.1:p.Gln594=
ENST00000339854.8:c.1242G>A	ENSP00000339639.4:p.Gln414=
ENST00000536379.5:c.1149G>A	ENSP00000445079.1:p.Gln383=
ENST00000536980.5:c.*58G>A	ENSP00000444178.1:n.*58G>A
ENST00000537682.5:c.*58G>A	ENSP00000438611.1:n.*58G>A
ENST00000538326.5:c.*407G>A	ENSP00000437486.1:n.*407G>A
ENST00000539145.5:c.703G>A	ENSP00000444471.1:n.703G>A
ENST00000541159.5:c.1324G>A	ENSP00000438711.1:p.Gly442Ser
ENST00000542898.5:c.*58G>A	ENSP00000444615.1:n.*58G>A
ENST00000570511.5:c.1187G>A	ENSP00000458312.1:n.1187G>A
ENST00000572244.5:c.472G>A	ENSP00000461186.1:n.472G>A
ENST00000574583.5:c.554G>A	ENSP00000460269.1:n.554G>A
ENST00000576315.5:c.587G>A	ENSP00000460551.1:n.587G>A
ENST00000621655.1:c.1319G>A	ENSP00000481436.1:n.1319G>A
ENST00000697124.1:n.903G>A
XM_017023236.2:c.1779G>A	XP_016878725.1:p.Gln593=
XR_001751903.1:n.2089G>A