Canonical Allele Identifier: CA493383772

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293444A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243444A>T , CM000678.2:g.3243444A>T	GRCh38
NC_000016.9:g.3293444A>T , CM000678.1:g.3293444A>T	GRCh37
NC_000016.8:g.3233445A>T	NCBI36
NG_007871.1:g.18184T>A , LRG_190:g.18184T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1164T>A
ENST00000219596.6:c.2043T>A MANE Select	ENSP00000219596.1:p.Thr681=
ENST00000219596.5:c.2043T>A	ENSP00000219596.1:p.Thr681=
ENST00000339854.8:c.1503T>A	ENSP00000339639.4:p.Thr501=
ENST00000536379.5:c.1410T>A	ENSP00000445079.1:p.Thr470=
ENST00000536980.5:c.*319T>A	ENSP00000444178.1:n.*319T>A
ENST00000537682.5:c.*319T>A	ENSP00000438611.1:n.*319T>A
ENST00000538326.5:c.*668T>A	ENSP00000437486.1:n.*668T>A
ENST00000539145.5:c.964T>A	ENSP00000444471.1:n.964T>A
ENST00000541159.5:c.1585T>A	ENSP00000438711.1:n.1585T>A
ENST00000542898.5:c.*319T>A	ENSP00000444615.1:n.*319T>A
ENST00000570511.5:c.1448T>A	ENSP00000458312.1:n.1448T>A
ENST00000572244.5:c.733T>A	ENSP00000461186.1:n.733T>A
ENST00000574583.5:c.815T>A	ENSP00000460269.1:n.815T>A
ENST00000576315.5:c.848T>A	ENSP00000460551.1:n.848T>A
ENST00000621655.1:c.1580T>A	ENSP00000481436.1:n.1580T>A
NM_000243.2:c.2043T>A , LRG_190t1:c.2043T>A	NP_000234.1:p.Thr681=
NM_001198536.1:c.*247T>A	NP_001185465.1:n.*247T>A
XM_017023236.2:c.2040T>A	XP_016878725.1:p.Thr680=
NM_000243.3:c.2043T>A MANE Select	NP_000234.1:p.Thr681=
NM_001198536.2:c.*247T>A	NP_001185465.2:n.*247T>A