Canonical Allele Identifier: CA493258099

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293240A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243240A>T , CM000678.2:g.3243240A>T	GRCh38
NC_000016.9:g.3293240A>T , CM000678.1:g.3293240A>T	GRCh37
NC_000016.8:g.3233241A>T	NCBI36
NG_007871.1:g.18388T>A , LRG_190:g.18388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1368T>A
ENST00000219596.6:c.2247T>A MANE Select	ENSP00000219596.1:p.Ser749=
ENST00000219596.5:c.2247T>A	ENSP00000219596.1:p.Ser749=
ENST00000339854.8:c.1707T>A	ENSP00000339639.4:p.Ser569=
ENST00000536379.5:c.1614T>A	ENSP00000445079.1:p.Ser538=
ENST00000536980.5:c.*523T>A	ENSP00000444178.1:n.*523T>A
ENST00000537682.5:c.*523T>A	ENSP00000438611.1:n.*523T>A
ENST00000538326.5:c.*872T>A	ENSP00000437486.1:n.*872T>A
ENST00000539145.5:c.1168T>A	ENSP00000444471.1:n.1168T>A
ENST00000541159.5:c.1789T>A	ENSP00000438711.1:n.1789T>A
ENST00000542898.5:c.*523T>A	ENSP00000444615.1:n.*523T>A
ENST00000570511.5:c.1652T>A	ENSP00000458312.1:n.1652T>A
ENST00000572244.5:c.937T>A	ENSP00000461186.1:n.937T>A
ENST00000574583.5:c.1019T>A	ENSP00000460269.1:n.1019T>A
ENST00000576315.5:c.1052T>A	ENSP00000460551.1:n.1052T>A
ENST00000621655.1:c.1784T>A	ENSP00000481436.1:n.1784T>A
NM_000243.2:c.2247T>A , LRG_190t1:c.2247T>A	NP_000234.1:p.Ser749=
NM_001198536.1:c.*451T>A	NP_001185465.1:n.*451T>A
XM_017023236.2:c.2244T>A	XP_016878725.1:p.Ser748=
NM_000243.3:c.2247T>A MANE Select	NP_000234.1:p.Ser749=
NM_001198536.2:c.*451T>A	NP_001185465.2:n.*451T>A