Canonical Allele Identifier: CA394485115

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243260-A-T
• MyVariant Identifiers: chr16:g.3293260A>T (hg19) ; chr16:g.3243260A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243260A>T , CM000678.2:g.3243260A>T	GRCh38
NC_000016.9:g.3293260A>T , CM000678.1:g.3293260A>T	GRCh37
NC_000016.8:g.3233261A>T	NCBI36
NG_007871.1:g.18368T>A , LRG_190:g.18368T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1348T>A
ENST00000219596.6:c.2227T>A MANE Select	ENSP00000219596.1:p.Phe743Ile
ENST00000219596.5:c.2227T>A	ENSP00000219596.1:p.Phe743Ile
ENST00000339854.8:c.1687T>A	ENSP00000339639.4:p.Phe563Ile
ENST00000536379.5:c.1594T>A	ENSP00000445079.1:p.Phe532Ile
ENST00000536980.5:c.*503T>A	ENSP00000444178.1:n.*503T>A
ENST00000537682.5:c.*503T>A	ENSP00000438611.1:n.*503T>A
ENST00000538326.5:c.*852T>A	ENSP00000437486.1:n.*852T>A
ENST00000539145.5:c.1148T>A	ENSP00000444471.1:n.1148T>A
ENST00000541159.5:c.1769T>A	ENSP00000438711.1:n.1769T>A
ENST00000542898.5:c.*503T>A	ENSP00000444615.1:n.*503T>A
ENST00000570511.5:c.1632T>A	ENSP00000458312.1:n.1632T>A
ENST00000572244.5:c.917T>A	ENSP00000461186.1:n.917T>A
ENST00000574583.5:c.999T>A	ENSP00000460269.1:n.999T>A
ENST00000576315.5:c.1032T>A	ENSP00000460551.1:n.1032T>A
ENST00000621655.1:c.1764T>A	ENSP00000481436.1:n.1764T>A
NM_000243.2:c.2227T>A , LRG_190t1:c.2227T>A	NP_000234.1:p.Phe743Ile
NM_001198536.1:c.*431T>A	NP_001185465.1:n.*431T>A
XM_017023236.2:c.2224T>A	XP_016878725.1:p.Phe742Ile
NM_000243.3:c.2227T>A MANE Select	NP_000234.1:p.Phe743Ile
NM_001198536.2:c.*431T>A	NP_001185465.2:n.*431T>A