Canonical Allele Identifier: CA394487543

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293544A>G (hg19) ; chr16:g.3243544A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243544A>G , CM000678.2:g.3243544A>G	GRCh38
NC_000016.9:g.3293544A>G , CM000678.1:g.3293544A>G	GRCh37
NC_000016.8:g.3233545A>G	NCBI36
NG_007871.1:g.18084T>C , LRG_190:g.18084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1064T>C
ENST00000219596.6:c.1943T>C MANE Select	ENSP00000219596.1:p.Phe648Ser
ENST00000219596.5:c.1943T>C	ENSP00000219596.1:p.Phe648Ser
ENST00000339854.8:c.1403T>C	ENSP00000339639.4:p.Phe468Ser
ENST00000536379.5:c.1310T>C	ENSP00000445079.1:p.Phe437Ser
ENST00000536980.5:c.*219T>C	ENSP00000444178.1:n.*219T>C
ENST00000537682.5:c.*219T>C	ENSP00000438611.1:n.*219T>C
ENST00000538326.5:c.*568T>C	ENSP00000437486.1:n.*568T>C
ENST00000539145.5:c.864T>C	ENSP00000444471.1:n.864T>C
ENST00000541159.5:c.1485T>C	ENSP00000438711.1:n.1485T>C
ENST00000542898.5:c.*219T>C	ENSP00000444615.1:n.*219T>C
ENST00000570511.5:c.1348T>C	ENSP00000458312.1:n.1348T>C
ENST00000572244.5:c.633T>C	ENSP00000461186.1:n.633T>C
ENST00000574583.5:c.715T>C	ENSP00000460269.1:n.715T>C
ENST00000576315.5:c.748T>C	ENSP00000460551.1:n.748T>C
ENST00000621655.1:c.1480T>C	ENSP00000481436.1:n.1480T>C
NM_000243.2:c.1943T>C , LRG_190t1:c.1943T>C	NP_000234.1:p.Phe648Ser
NM_001198536.1:c.*147T>C	NP_001185465.1:n.*147T>C
XM_017023236.2:c.1940T>C	XP_016878725.1:p.Phe647Ser
NM_000243.3:c.1943T>C MANE Select	NP_000234.1:p.Phe648Ser
NM_001198536.2:c.*147T>C	NP_001185465.2:n.*147T>C