Canonical Allele Identifier: CA394488820

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293867T>A (hg19) ; chr16:g.3243867T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243867T>A , CM000678.2:g.3243867T>A	GRCh38
NC_000016.9:g.3293867T>A , CM000678.1:g.3293867T>A	GRCh37
NC_000016.8:g.3233868T>A	NCBI36
NG_007871.1:g.17761A>T , LRG_190:g.17761A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.906A>T
ENST00000219596.6:c.1785A>T MANE Select	ENSP00000219596.1:p.Ala595=
ENST00000219596.5:c.1785A>T	ENSP00000219596.1:p.Ala595=
ENST00000339854.8:c.1245A>T	ENSP00000339639.4:p.Ala415=
ENST00000536379.5:c.1152A>T	ENSP00000445079.1:p.Ala384=
ENST00000536980.5:c.*61A>T	ENSP00000444178.1:n.*61A>T
ENST00000537682.5:c.*61A>T	ENSP00000438611.1:n.*61A>T
ENST00000538326.5:c.*410A>T	ENSP00000437486.1:n.*410A>T
ENST00000539145.5:c.706A>T	ENSP00000444471.1:n.706A>T
ENST00000541159.5:c.1327A>T	ENSP00000438711.1:p.Thr443Ser
ENST00000542898.5:c.*61A>T	ENSP00000444615.1:n.*61A>T
ENST00000570511.5:c.1190A>T	ENSP00000458312.1:n.1190A>T
ENST00000572244.5:c.475A>T	ENSP00000461186.1:n.475A>T
ENST00000574583.5:c.557A>T	ENSP00000460269.1:n.557A>T
ENST00000576315.5:c.590A>T	ENSP00000460551.1:n.590A>T
ENST00000621655.1:c.1322A>T	ENSP00000481436.1:n.1322A>T
NM_000243.2:c.1785A>T , LRG_190t1:c.1785A>T	NP_000234.1:p.Ala595=
NM_001198536.1:c.1327A>T	NP_001185465.1:p.Thr443Ser
XM_017023236.2:c.1782A>T	XP_016878725.1:p.Ala594=
XR_001751903.1:n.2092A>T
NM_000243.3:c.1785A>T MANE Select	NP_000234.1:p.Ala595=
NM_001198536.2:c.1327A>T	NP_001185465.2:p.Thr443Ser