Canonical Allele Identifier: CA394486763

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293466A>T (hg19) ; chr16:g.3243466A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243466A>T , CM000678.2:g.3243466A>T	GRCh38
NC_000016.9:g.3293466A>T , CM000678.1:g.3293466A>T	GRCh37
NC_000016.8:g.3233467A>T	NCBI36
NG_007871.1:g.18162T>A , LRG_190:g.18162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1142T>A
ENST00000219596.6:c.2021T>A MANE Select	ENSP00000219596.1:p.Ile674Lys
ENST00000219596.5:c.2021T>A	ENSP00000219596.1:p.Ile674Lys
ENST00000339854.8:c.1481T>A	ENSP00000339639.4:p.Ile494Lys
ENST00000536379.5:c.1388T>A	ENSP00000445079.1:p.Ile463Lys
ENST00000536980.5:c.*297T>A	ENSP00000444178.1:n.*297T>A
ENST00000537682.5:c.*297T>A	ENSP00000438611.1:n.*297T>A
ENST00000538326.5:c.*646T>A	ENSP00000437486.1:n.*646T>A
ENST00000539145.5:c.942T>A	ENSP00000444471.1:n.942T>A
ENST00000541159.5:c.1563T>A	ENSP00000438711.1:n.1563T>A
ENST00000542898.5:c.*297T>A	ENSP00000444615.1:n.*297T>A
ENST00000570511.5:c.1426T>A	ENSP00000458312.1:n.1426T>A
ENST00000572244.5:c.711T>A	ENSP00000461186.1:n.711T>A
ENST00000574583.5:c.793T>A	ENSP00000460269.1:n.793T>A
ENST00000576315.5:c.826T>A	ENSP00000460551.1:n.826T>A
ENST00000621655.1:c.1558T>A	ENSP00000481436.1:n.1558T>A
NM_000243.2:c.2021T>A , LRG_190t1:c.2021T>A	NP_000234.1:p.Ile674Lys
NM_001198536.1:c.*225T>A	NP_001185465.1:n.*225T>A
XM_017023236.2:c.2018T>A	XP_016878725.1:p.Ile673Lys
NM_000243.3:c.2021T>A MANE Select	NP_000234.1:p.Ile674Lys
NM_001198536.2:c.*225T>A	NP_001185465.2:n.*225T>A