Canonical Allele Identifier: CA280110

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2549
• ClinVar RCV Id: RCV000002658 ; RCV000217233 ; RCV000763379 ; RCV001536101 ; RCV002512683 ; RCV002262548 ; RCV003466787
• dbSNP Id: rs104895097
• ExAC: 16:3293205 C / T
• gnomAD v2: 16-3293205-C-T
• gnomAD v3: 16-3243205-C-T
• gnomAD v4: 16-3243205-C-T
• MyVariant Identifiers: chr16:g.3293205C>T (hg19) ; chr16:g.3243205C>T (hg38)
• PubMed: PMID:9668175 ; PMID:10090880 ; PMID:10364520 ; PMID:10612841 ; PMID:15951859 ; PMID:16378925 ; PMID:17566872 ; PMID:19449169 ; PMID:19863562 ; PMID:20301405 ; PMID:20485448 ; PMID:21598806 ; PMID:23891399 ; PMID:23907647 ; PMID:24071932 ; PMID:24301775 ; PMID:25393764 ; PMID:25648235 ; PMID:27621632 ; PMID:27659338 ; PMID:27980538

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243205C>T , CM000678.2:g.3243205C>T	GRCh38
NC_000016.9:g.3293205C>T , CM000678.1:g.3293205C>T	GRCh37
NC_000016.8:g.3233206C>T	NCBI36
NG_007871.1:g.18423G>A , LRG_190:g.18423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1403G>A
ENST00000219596.6:c.2282G>A MANE Select	ENSP00000219596.1:p.Arg761His
ENST00000219596.5:c.2282G>A	ENSP00000219596.1:p.Arg761His
ENST00000339854.8:c.1742G>A	ENSP00000339639.4:p.Arg581His
ENST00000536379.5:c.1649G>A	ENSP00000445079.1:p.Arg550His
ENST00000536980.5:c.*558G>A	ENSP00000444178.1:n.*558G>A
ENST00000537682.5:c.*558G>A	ENSP00000438611.1:n.*558G>A
ENST00000538326.5:c.*907G>A	ENSP00000437486.1:n.*907G>A
ENST00000539145.5:c.1203G>A	ENSP00000444471.1:n.1203G>A
ENST00000541159.5:c.1824G>A	ENSP00000438711.1:n.1824G>A
ENST00000542898.5:c.*558G>A	ENSP00000444615.1:n.*558G>A
ENST00000570511.5:c.1687G>A	ENSP00000458312.1:n.1687G>A
ENST00000572244.5:c.972G>A	ENSP00000461186.1:n.972G>A
ENST00000574583.5:c.1054G>A	ENSP00000460269.1:n.1054G>A
ENST00000576315.5:c.1087G>A	ENSP00000460551.1:n.1087G>A
ENST00000621655.1:c.1819G>A	ENSP00000481436.1:n.1819G>A
NM_000243.2:c.2282G>A , LRG_190t1:c.2282G>A	NP_000234.1:p.Arg761His
NM_001198536.1:c.*486G>A	NP_001185465.1:n.*486G>A
XM_017023236.2:c.2279G>A	XP_016878725.1:p.Arg760His
NM_000243.3:c.2282G>A MANE Select	NP_000234.1:p.Arg761His
NM_001198536.2:c.*486G>A	NP_001185465.2:n.*486G>A