Canonical Allele Identifier: CA394484831

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293224T>A (hg19) ; chr16:g.3243224T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243224T>A , CM000678.2:g.3243224T>A	GRCh38
NC_000016.9:g.3293224T>A , CM000678.1:g.3293224T>A	GRCh37
NC_000016.8:g.3233225T>A	NCBI36
NG_007871.1:g.18404A>T , LRG_190:g.18404A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1384A>T
ENST00000219596.6:c.2263A>T MANE Select	ENSP00000219596.1:p.Ile755Phe
ENST00000219596.5:c.2263A>T	ENSP00000219596.1:p.Ile755Phe
ENST00000339854.8:c.1723A>T	ENSP00000339639.4:p.Ile575Phe
ENST00000536379.5:c.1630A>T	ENSP00000445079.1:p.Ile544Phe
ENST00000536980.5:c.*539A>T	ENSP00000444178.1:n.*539A>T
ENST00000537682.5:c.*539A>T	ENSP00000438611.1:n.*539A>T
ENST00000538326.5:c.*888A>T	ENSP00000437486.1:n.*888A>T
ENST00000539145.5:c.1184A>T	ENSP00000444471.1:n.1184A>T
ENST00000541159.5:c.1805A>T	ENSP00000438711.1:n.1805A>T
ENST00000542898.5:c.*539A>T	ENSP00000444615.1:n.*539A>T
ENST00000570511.5:c.1668A>T	ENSP00000458312.1:n.1668A>T
ENST00000572244.5:c.953A>T	ENSP00000461186.1:n.953A>T
ENST00000574583.5:c.1035A>T	ENSP00000460269.1:n.1035A>T
ENST00000576315.5:c.1068A>T	ENSP00000460551.1:n.1068A>T
ENST00000621655.1:c.1800A>T	ENSP00000481436.1:n.1800A>T
NM_000243.2:c.2263A>T , LRG_190t1:c.2263A>T	NP_000234.1:p.Ile755Phe
NM_001198536.1:c.*467A>T	NP_001185465.1:n.*467A>T
XM_017023236.2:c.2260A>T	XP_016878725.1:p.Ile754Phe
NM_000243.3:c.2263A>T MANE Select	NP_000234.1:p.Ile755Phe
NM_001198536.2:c.*467A>T	NP_001185465.2:n.*467A>T