Canonical Allele Identifier: CA493383503

Gene: MEFV

Linked Data

• dbSNP Id: rs1958893305
• gnomAD v3: 16-3243564-A-G
• gnomAD v4: 16-3243564-A-G
• MyVariant Identifiers: chr16:g.3293564A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243564A>G , CM000678.2:g.3243564A>G	GRCh38
NC_000016.9:g.3293564A>G , CM000678.1:g.3293564A>G	GRCh37
NC_000016.8:g.3233565A>G	NCBI36
NG_007871.1:g.18064T>C , LRG_190:g.18064T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1044T>C
ENST00000219596.6:c.1923T>C MANE Select	ENSP00000219596.1:p.Ile641=
ENST00000219596.5:c.1923T>C	ENSP00000219596.1:p.Ile641=
ENST00000339854.8:c.1383T>C	ENSP00000339639.4:p.Ile461=
ENST00000536379.5:c.1290T>C	ENSP00000445079.1:p.Ile430=
ENST00000536980.5:c.*199T>C	ENSP00000444178.1:n.*199T>C
ENST00000537682.5:c.*199T>C	ENSP00000438611.1:n.*199T>C
ENST00000538326.5:c.*548T>C	ENSP00000437486.1:n.*548T>C
ENST00000539145.5:c.844T>C	ENSP00000444471.1:n.844T>C
ENST00000541159.5:c.1465T>C	ENSP00000438711.1:n.1465T>C
ENST00000542898.5:c.*199T>C	ENSP00000444615.1:n.*199T>C
ENST00000570511.5:c.1328T>C	ENSP00000458312.1:n.1328T>C
ENST00000572244.5:c.613T>C	ENSP00000461186.1:n.613T>C
ENST00000574583.5:c.695T>C	ENSP00000460269.1:n.695T>C
ENST00000576315.5:c.728T>C	ENSP00000460551.1:n.728T>C
ENST00000621655.1:c.1460T>C	ENSP00000481436.1:n.1460T>C
NM_000243.2:c.1923T>C , LRG_190t1:c.1923T>C	NP_000234.1:p.Ile641=
NM_001198536.1:c.*127T>C	NP_001185465.1:n.*127T>C
XM_017023236.2:c.1920T>C	XP_016878725.1:p.Ile640=
NM_000243.3:c.1923T>C MANE Select	NP_000234.1:p.Ile641=
NM_001198536.2:c.*127T>C	NP_001185465.2:n.*127T>C