Canonical Allele Identifier: CA280268

Gene: MEFV

Linked Data

• ClinVar Variation Id: 36508
• ClinVar RCV Id: RCV001705606 ; RCV001731318 ; RCV002262587 ; RCV002415434
• dbSNP Id: rs2234939
• ExAC: 16:3293369 C / T
• gnomAD v2: 16-3293369-C-T
• gnomAD v3: 16-3243369-C-T
• gnomAD v4: 16-3243369-C-T
• MyVariant Identifiers: chr16:g.3293369C>T (hg19) ; chr16:g.3243369C>T (hg38)
• PubMed: PMID:21413889

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243369C>T , CM000678.2:g.3243369C>T	GRCh38
NC_000016.9:g.3293369C>T , CM000678.1:g.3293369C>T	GRCh37
NC_000016.8:g.3233370C>T	NCBI36
NG_007871.1:g.18259G>A , LRG_190:g.18259G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1239G>A
ENST00000219596.6:c.2118G>A MANE Select	ENSP00000219596.1:p.Pro706=
ENST00000219596.5:c.2118G>A	ENSP00000219596.1:p.Pro706=
ENST00000339854.8:c.1578G>A	ENSP00000339639.4:p.Pro526=
ENST00000536379.5:c.1485G>A	ENSP00000445079.1:p.Pro495=
ENST00000536980.5:c.*394G>A	ENSP00000444178.1:n.*394G>A
ENST00000537682.5:c.*394G>A	ENSP00000438611.1:n.*394G>A
ENST00000538326.5:c.*743G>A	ENSP00000437486.1:n.*743G>A
ENST00000539145.5:c.1039G>A	ENSP00000444471.1:n.1039G>A
ENST00000541159.5:c.1660G>A	ENSP00000438711.1:n.1660G>A
ENST00000542898.5:c.*394G>A	ENSP00000444615.1:n.*394G>A
ENST00000570511.5:c.1523G>A	ENSP00000458312.1:n.1523G>A
ENST00000572244.5:c.808G>A	ENSP00000461186.1:n.808G>A
ENST00000574583.5:c.890G>A	ENSP00000460269.1:n.890G>A
ENST00000576315.5:c.923G>A	ENSP00000460551.1:n.923G>A
ENST00000621655.1:c.1655G>A	ENSP00000481436.1:n.1655G>A
NM_000243.2:c.2118G>A , LRG_190t1:c.2118G>A	NP_000234.1:p.Pro706=
NM_001198536.1:c.*322G>A	NP_001185465.1:n.*322G>A
XM_017023236.2:c.2115G>A	XP_016878725.1:p.Pro705=
NM_000243.3:c.2118G>A MANE Select	NP_000234.1:p.Pro706=
NM_001198536.2:c.*322G>A	NP_001185465.2:n.*322G>A