Canonical Allele Identifier: CA394485734

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293344G>T (hg19) ; chr16:g.3243344G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243344G>T , CM000678.2:g.3243344G>T	GRCh38
NC_000016.9:g.3293344G>T , CM000678.1:g.3293344G>T	GRCh37
NC_000016.8:g.3233345G>T	NCBI36
NG_007871.1:g.18284C>A , LRG_190:g.18284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1264C>A
ENST00000219596.6:c.2143C>A MANE Select	ENSP00000219596.1:p.Pro715Thr
ENST00000219596.5:c.2143C>A	ENSP00000219596.1:p.Pro715Thr
ENST00000339854.8:c.1603C>A	ENSP00000339639.4:p.Pro535Thr
ENST00000536379.5:c.1510C>A	ENSP00000445079.1:p.Pro504Thr
ENST00000536980.5:c.*419C>A	ENSP00000444178.1:n.*419C>A
ENST00000537682.5:c.*419C>A	ENSP00000438611.1:n.*419C>A
ENST00000538326.5:c.*768C>A	ENSP00000437486.1:n.*768C>A
ENST00000539145.5:c.1064C>A	ENSP00000444471.1:n.1064C>A
ENST00000541159.5:c.1685C>A	ENSP00000438711.1:n.1685C>A
ENST00000542898.5:c.*419C>A	ENSP00000444615.1:n.*419C>A
ENST00000570511.5:c.1548C>A	ENSP00000458312.1:n.1548C>A
ENST00000572244.5:c.833C>A	ENSP00000461186.1:n.833C>A
ENST00000574583.5:c.915C>A	ENSP00000460269.1:n.915C>A
ENST00000576315.5:c.948C>A	ENSP00000460551.1:n.948C>A
ENST00000621655.1:c.1680C>A	ENSP00000481436.1:n.1680C>A
NM_000243.2:c.2143C>A , LRG_190t1:c.2143C>A	NP_000234.1:p.Pro715Thr
NM_001198536.1:c.*347C>A	NP_001185465.1:n.*347C>A
XM_017023236.2:c.2140C>A	XP_016878725.1:p.Pro714Thr
NM_000243.3:c.2143C>A MANE Select	NP_000234.1:p.Pro715Thr
NM_001198536.2:c.*347C>A	NP_001185465.2:n.*347C>A