Canonical Allele Identifier: CA394485224

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293275A>T (hg19) ; chr16:g.3243275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243275A>T , CM000678.2:g.3243275A>T	GRCh38
NC_000016.9:g.3293275A>T , CM000678.1:g.3293275A>T	GRCh37
NC_000016.8:g.3233276A>T	NCBI36
NG_007871.1:g.18353T>A , LRG_190:g.18353T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1333T>A
ENST00000219596.6:c.2212T>A MANE Select	ENSP00000219596.1:p.Ser738Thr
ENST00000219596.5:c.2212T>A	ENSP00000219596.1:p.Ser738Thr
ENST00000339854.8:c.1672T>A	ENSP00000339639.4:p.Ser558Thr
ENST00000536379.5:c.1579T>A	ENSP00000445079.1:p.Ser527Thr
ENST00000536980.5:c.*488T>A	ENSP00000444178.1:n.*488T>A
ENST00000537682.5:c.*488T>A	ENSP00000438611.1:n.*488T>A
ENST00000538326.5:c.*837T>A	ENSP00000437486.1:n.*837T>A
ENST00000539145.5:c.1133T>A	ENSP00000444471.1:n.1133T>A
ENST00000541159.5:c.1754T>A	ENSP00000438711.1:n.1754T>A
ENST00000542898.5:c.*488T>A	ENSP00000444615.1:n.*488T>A
ENST00000570511.5:c.1617T>A	ENSP00000458312.1:n.1617T>A
ENST00000572244.5:c.902T>A	ENSP00000461186.1:n.902T>A
ENST00000574583.5:c.984T>A	ENSP00000460269.1:n.984T>A
ENST00000576315.5:c.1017T>A	ENSP00000460551.1:n.1017T>A
ENST00000621655.1:c.1749T>A	ENSP00000481436.1:n.1749T>A
NM_000243.2:c.2212T>A , LRG_190t1:c.2212T>A	NP_000234.1:p.Ser738Thr
NM_001198536.1:c.*416T>A	NP_001185465.1:n.*416T>A
XM_017023236.2:c.2209T>A	XP_016878725.1:p.Ser737Thr
NM_000243.3:c.2212T>A MANE Select	NP_000234.1:p.Ser738Thr
NM_001198536.2:c.*416T>A	NP_001185465.2:n.*416T>A