Canonical Allele Identifier: CA493383508

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293579A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243579A>G , CM000678.2:g.3243579A>G	GRCh38
NC_000016.9:g.3293579A>G , CM000678.1:g.3293579A>G	GRCh37
NC_000016.8:g.3233580A>G	NCBI36
NG_007871.1:g.18049T>C , LRG_190:g.18049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1029T>C
ENST00000219596.6:c.1908T>C MANE Select	ENSP00000219596.1:p.Phe636=
ENST00000219596.5:c.1908T>C	ENSP00000219596.1:p.Phe636=
ENST00000339854.8:c.1368T>C	ENSP00000339639.4:p.Phe456=
ENST00000536379.5:c.1275T>C	ENSP00000445079.1:p.Phe425=
ENST00000536980.5:c.*184T>C	ENSP00000444178.1:n.*184T>C
ENST00000537682.5:c.*184T>C	ENSP00000438611.1:n.*184T>C
ENST00000538326.5:c.*533T>C	ENSP00000437486.1:n.*533T>C
ENST00000539145.5:c.829T>C	ENSP00000444471.1:n.829T>C
ENST00000541159.5:c.1450T>C	ENSP00000438711.1:n.1450T>C
ENST00000542898.5:c.*184T>C	ENSP00000444615.1:n.*184T>C
ENST00000570511.5:c.1313T>C	ENSP00000458312.1:n.1313T>C
ENST00000572244.5:c.598T>C	ENSP00000461186.1:n.598T>C
ENST00000574583.5:c.680T>C	ENSP00000460269.1:n.680T>C
ENST00000576315.5:c.713T>C	ENSP00000460551.1:n.713T>C
ENST00000621655.1:c.1445T>C	ENSP00000481436.1:n.1445T>C
NM_000243.2:c.1908T>C , LRG_190t1:c.1908T>C	NP_000234.1:p.Phe636=
NM_001198536.1:c.*112T>C	NP_001185465.1:n.*112T>C
XM_017023236.2:c.1905T>C	XP_016878725.1:p.Phe635=
NM_000243.3:c.1908T>C MANE Select	NP_000234.1:p.Phe636=
NM_001198536.2:c.*112T>C	NP_001185465.2:n.*112T>C