Canonical Allele Identifier: CA280561

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97507
• ClinVar RCV Id: RCV000083759 ; RCV001562685 ; RCV003126462 ; RCV003126461 ; RCV002483163
• dbSNP Id: rs104895194
• ExAC: 16:3293224 T / C
• gnomAD v2: 16-3293224-T-C
• gnomAD v3: 16-3243224-T-C
• gnomAD v4: 16-3243224-T-C
• MyVariant Identifiers: chr16:g.3293224T>C (hg19) ; chr16:g.3243224T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1384A>G
ENST00000219596.6:c.2263A>G MANE Select	ENSP00000219596.1:p.Ile755Val
ENST00000219596.5:c.2263A>G	ENSP00000219596.1:p.Ile755Val
ENST00000339854.8:c.1723A>G	ENSP00000339639.4:p.Ile575Val
ENST00000536379.5:c.1630A>G	ENSP00000445079.1:p.Ile544Val
ENST00000536980.5:c.*539A>G	ENSP00000444178.1:n.*539A>G
ENST00000537682.5:c.*539A>G	ENSP00000438611.1:n.*539A>G
ENST00000538326.5:c.*888A>G	ENSP00000437486.1:n.*888A>G
ENST00000539145.5:c.1184A>G	ENSP00000444471.1:n.1184A>G
ENST00000541159.5:c.1805A>G	ENSP00000438711.1:n.1805A>G
ENST00000542898.5:c.*539A>G	ENSP00000444615.1:n.*539A>G
ENST00000570511.5:c.1668A>G	ENSP00000458312.1:n.1668A>G
ENST00000572244.5:c.953A>G	ENSP00000461186.1:n.953A>G
ENST00000574583.5:c.1035A>G	ENSP00000460269.1:n.1035A>G
ENST00000576315.5:c.1068A>G	ENSP00000460551.1:n.1068A>G
ENST00000621655.1:c.1800A>G	ENSP00000481436.1:n.1800A>G
NM_000243.2:c.2263A>G , LRG_190t1:c.2263A>G	NP_000234.1:p.Ile755Val
NM_001198536.1:c.*467A>G	NP_001185465.1:n.*467A>G
XM_017023236.2:c.2260A>G	XP_016878725.1:p.Ile754Val
NM_000243.3:c.2263A>G MANE Select	NP_000234.1:p.Ile755Val
NM_001198536.2:c.*467A>G	NP_001185465.2:n.*467A>G