Canonical Allele Identifier: CA493383741

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293414C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243414C>A , CM000678.2:g.3243414C>A	GRCh38
NC_000016.9:g.3293414C>A , CM000678.1:g.3293414C>A	GRCh37
NC_000016.8:g.3233415C>A	NCBI36
NG_007871.1:g.18214G>T , LRG_190:g.18214G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1194G>T
ENST00000219596.6:c.2073G>T MANE Select	ENSP00000219596.1:p.Val691=
ENST00000219596.5:c.2073G>T	ENSP00000219596.1:p.Val691=
ENST00000339854.8:c.1533G>T	ENSP00000339639.4:p.Val511=
ENST00000536379.5:c.1440G>T	ENSP00000445079.1:p.Val480=
ENST00000536980.5:c.*349G>T	ENSP00000444178.1:n.*349G>T
ENST00000537682.5:c.*349G>T	ENSP00000438611.1:n.*349G>T
ENST00000538326.5:c.*698G>T	ENSP00000437486.1:n.*698G>T
ENST00000539145.5:c.994G>T	ENSP00000444471.1:n.994G>T
ENST00000541159.5:c.1615G>T	ENSP00000438711.1:n.1615G>T
ENST00000542898.5:c.*349G>T	ENSP00000444615.1:n.*349G>T
ENST00000570511.5:c.1478G>T	ENSP00000458312.1:n.1478G>T
ENST00000572244.5:c.763G>T	ENSP00000461186.1:n.763G>T
ENST00000574583.5:c.845G>T	ENSP00000460269.1:n.845G>T
ENST00000576315.5:c.878G>T	ENSP00000460551.1:n.878G>T
ENST00000621655.1:c.1610G>T	ENSP00000481436.1:n.1610G>T
NM_000243.2:c.2073G>T , LRG_190t1:c.2073G>T	NP_000234.1:p.Val691=
NM_001198536.1:c.*277G>T	NP_001185465.1:n.*277G>T
XM_017023236.2:c.2070G>T	XP_016878725.1:p.Val690=
NM_000243.3:c.2073G>T MANE Select	NP_000234.1:p.Val691=
NM_001198536.2:c.*277G>T	NP_001185465.2:n.*277G>T