Canonical Allele Identifier: CA280095

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2540
• ClinVar RCV Id: RCV000002649 ; RCV000220654 ; RCV000515437 ; RCV000623003 ; RCV000984975 ; RCV001535867 ; RCV002262541
• dbSNP Id: rs28940579
• ExAC: 16:3293310 A / G
• gnomAD v2: 16-3293310-A-G
• gnomAD v3: 16-3243310-A-G
• gnomAD v4: 16-3243310-A-G
• MyVariant Identifiers: chr16:g.3293310A>G (hg19) ; chr16:g.3243310A>G (hg38)
• PubMed: PMID:4015155 ; PMID:5340644 ; PMID:9288094 ; PMID:9288758 ; PMID:9527614 ; PMID:9668175 ; PMID:10024914 ; PMID:10234504 ; PMID:10364520 ; PMID:10612841 ; PMID:11468188 ; PMID:12929299 ; PMID:15868622 ; PMID:16378925 ; PMID:16785446 ; PMID:20301405 ; PMID:20485448 ; PMID:21995303 ; PMID:22878273 ; PMID:23891399 ; PMID:23907647 ; PMID:24424166 ; PMID:25393764 ; PMID:25760918 ; PMID:26690517 ; PMID:27659338 ; PMID:27994174 ; PMID:28386255

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243310A>G , CM000678.2:g.3243310A>G	GRCh38
NC_000016.9:g.3293310A>G , CM000678.1:g.3293310A>G	GRCh37
NC_000016.8:g.3233311A>G	NCBI36
NG_007871.1:g.18318T>C , LRG_190:g.18318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1298T>C
ENST00000219596.6:c.2177T>C MANE Select	ENSP00000219596.1:p.Val726Ala
ENST00000219596.5:c.2177T>C	ENSP00000219596.1:p.Val726Ala
ENST00000339854.8:c.1637T>C	ENSP00000339639.4:p.Val546Ala
ENST00000536379.5:c.1544T>C	ENSP00000445079.1:p.Val515Ala
ENST00000536980.5:c.*453T>C	ENSP00000444178.1:n.*453T>C
ENST00000537682.5:c.*453T>C	ENSP00000438611.1:n.*453T>C
ENST00000538326.5:c.*802T>C	ENSP00000437486.1:n.*802T>C
ENST00000539145.5:c.1098T>C	ENSP00000444471.1:n.1098T>C
ENST00000541159.5:c.1719T>C	ENSP00000438711.1:n.1719T>C
ENST00000542898.5:c.*453T>C	ENSP00000444615.1:n.*453T>C
ENST00000570511.5:c.1582T>C	ENSP00000458312.1:n.1582T>C
ENST00000572244.5:c.867T>C	ENSP00000461186.1:n.867T>C
ENST00000574583.5:c.949T>C	ENSP00000460269.1:n.949T>C
ENST00000576315.5:c.982T>C	ENSP00000460551.1:n.982T>C
ENST00000621655.1:c.1714T>C	ENSP00000481436.1:n.1714T>C
NM_000243.2:c.2177T>C , LRG_190t1:c.2177T>C	NP_000234.1:p.Val726Ala
NM_001198536.1:c.*381T>C	NP_001185465.1:n.*381T>C
XM_017023236.2:c.2174T>C	XP_016878725.1:p.Val725Ala
NM_000243.3:c.2177T>C MANE Select	NP_000234.1:p.Val726Ala
NM_001198536.2:c.*381T>C	NP_001185465.2:n.*381T>C