Canonical Allele Identifier: CA280526

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97494
• ClinVar RCV Id: RCV000083746 ; RCV003126447 ; RCV003126448
• dbSNP Id: rs104895096
• ExAC: 16:3293377 C / T
• gnomAD v2: 16-3293377-C-T
• gnomAD v3: 16-3243377-C-T
• gnomAD v4: 16-3243377-C-T
• COSMIC: COSM1377690
• MyVariant Identifiers: chr16:g.3293377C>T (hg19) ; chr16:g.3243377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243377C>T , CM000678.2:g.3243377C>T	GRCh38
NC_000016.9:g.3293377C>T , CM000678.1:g.3293377C>T	GRCh37
NC_000016.8:g.3233378C>T	NCBI36
NG_007871.1:g.18251G>A , LRG_190:g.18251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1231G>A
ENST00000219596.6:c.2110G>A MANE Select	ENSP00000219596.1:p.Val704Ile
ENST00000219596.5:c.2110G>A	ENSP00000219596.1:p.Val704Ile
ENST00000339854.8:c.1570G>A	ENSP00000339639.4:p.Val524Ile
ENST00000536379.5:c.1477G>A	ENSP00000445079.1:p.Val493Ile
ENST00000536980.5:c.*386G>A	ENSP00000444178.1:n.*386G>A
ENST00000537682.5:c.*386G>A	ENSP00000438611.1:n.*386G>A
ENST00000538326.5:c.*735G>A	ENSP00000437486.1:n.*735G>A
ENST00000539145.5:c.1031G>A	ENSP00000444471.1:n.1031G>A
ENST00000541159.5:c.1652G>A	ENSP00000438711.1:n.1652G>A
ENST00000542898.5:c.*386G>A	ENSP00000444615.1:n.*386G>A
ENST00000570511.5:c.1515G>A	ENSP00000458312.1:n.1515G>A
ENST00000572244.5:c.800G>A	ENSP00000461186.1:n.800G>A
ENST00000574583.5:c.882G>A	ENSP00000460269.1:n.882G>A
ENST00000576315.5:c.915G>A	ENSP00000460551.1:n.915G>A
ENST00000621655.1:c.1647G>A	ENSP00000481436.1:n.1647G>A
NM_000243.2:c.2110G>A , LRG_190t1:c.2110G>A	NP_000234.1:p.Val704Ile
NM_001198536.1:c.*314G>A	NP_001185465.1:n.*314G>A
XM_017023236.2:c.2107G>A	XP_016878725.1:p.Val703Ile
NM_000243.3:c.2110G>A MANE Select	NP_000234.1:p.Val704Ile
NM_001198536.2:c.*314G>A	NP_001185465.2:n.*314G>A