Canonical Allele Identifier: CA394487682

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243569-T-C
• MyVariant Identifiers: chr16:g.3293569T>C (hg19) ; chr16:g.3243569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243569T>C , CM000678.2:g.3243569T>C	GRCh38
NC_000016.9:g.3293569T>C , CM000678.1:g.3293569T>C	GRCh37
NC_000016.8:g.3233570T>C	NCBI36
NG_007871.1:g.18059A>G , LRG_190:g.18059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1039A>G
ENST00000219596.6:c.1918A>G MANE Select	ENSP00000219596.1:p.Ile640Val
ENST00000219596.5:c.1918A>G	ENSP00000219596.1:p.Ile640Val
ENST00000339854.8:c.1378A>G	ENSP00000339639.4:p.Ile460Val
ENST00000536379.5:c.1285A>G	ENSP00000445079.1:p.Ile429Val
ENST00000536980.5:c.*194A>G	ENSP00000444178.1:n.*194A>G
ENST00000537682.5:c.*194A>G	ENSP00000438611.1:n.*194A>G
ENST00000538326.5:c.*543A>G	ENSP00000437486.1:n.*543A>G
ENST00000539145.5:c.839A>G	ENSP00000444471.1:n.839A>G
ENST00000541159.5:c.1460A>G	ENSP00000438711.1:n.1460A>G
ENST00000542898.5:c.*194A>G	ENSP00000444615.1:n.*194A>G
ENST00000570511.5:c.1323A>G	ENSP00000458312.1:n.1323A>G
ENST00000572244.5:c.608A>G	ENSP00000461186.1:n.608A>G
ENST00000574583.5:c.690A>G	ENSP00000460269.1:n.690A>G
ENST00000576315.5:c.723A>G	ENSP00000460551.1:n.723A>G
ENST00000621655.1:c.1455A>G	ENSP00000481436.1:n.1455A>G
NM_000243.2:c.1918A>G , LRG_190t1:c.1918A>G	NP_000234.1:p.Ile640Val
NM_001198536.1:c.*122A>G	NP_001185465.1:n.*122A>G
XM_017023236.2:c.1915A>G	XP_016878725.1:p.Ile639Val
NM_000243.3:c.1918A>G MANE Select	NP_000234.1:p.Ile640Val
NM_001198536.2:c.*122A>G	NP_001185465.2:n.*122A>G