Canonical Allele Identifier: CA280118

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2553
• ClinVar RCV Id: RCV000002662 ; RCV000255083 ; RCV003466788
• dbSNP Id: rs104895085
• ExAC: 16:3293529 C / T
• gnomAD v2: 16-3293529-C-T
• gnomAD v3: 16-3243529-C-T
• gnomAD v4: 16-3243529-C-T
• MyVariant Identifiers: chr16:g.3293529C>T (hg19) ; chr16:g.3243529C>T (hg38)
• PubMed: PMID:11242116 ; PMID:11470495 ; PMID:19479870 ; PMID:20301405 ; PMID:21413889 ; PMID:24158885 ; PMID:26620106

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243529C>T , CM000678.2:g.3243529C>T	GRCh38
NC_000016.9:g.3293529C>T , CM000678.1:g.3293529C>T	GRCh37
NC_000016.8:g.3233530C>T	NCBI36
NG_007871.1:g.18099G>A , LRG_190:g.18099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1079G>A
ENST00000219596.6:c.1958G>A MANE Select	ENSP00000219596.1:p.Arg653His
ENST00000219596.5:c.1958G>A	ENSP00000219596.1:p.Arg653His
ENST00000339854.8:c.1418G>A	ENSP00000339639.4:p.Arg473His
ENST00000536379.5:c.1325G>A	ENSP00000445079.1:p.Arg442His
ENST00000536980.5:c.*234G>A	ENSP00000444178.1:n.*234G>A
ENST00000537682.5:c.*234G>A	ENSP00000438611.1:n.*234G>A
ENST00000538326.5:c.*583G>A	ENSP00000437486.1:n.*583G>A
ENST00000539145.5:c.879G>A	ENSP00000444471.1:n.879G>A
ENST00000541159.5:c.1500G>A	ENSP00000438711.1:n.1500G>A
ENST00000542898.5:c.*234G>A	ENSP00000444615.1:n.*234G>A
ENST00000570511.5:c.1363G>A	ENSP00000458312.1:n.1363G>A
ENST00000572244.5:c.648G>A	ENSP00000461186.1:n.648G>A
ENST00000574583.5:c.730G>A	ENSP00000460269.1:n.730G>A
ENST00000576315.5:c.763G>A	ENSP00000460551.1:n.763G>A
ENST00000621655.1:c.1495G>A	ENSP00000481436.1:n.1495G>A
NM_000243.2:c.1958G>A , LRG_190t1:c.1958G>A	NP_000234.1:p.Arg653His
NM_001198536.1:c.*162G>A	NP_001185465.1:n.*162G>A
XM_017023236.2:c.1955G>A	XP_016878725.1:p.Arg652His
NM_000243.3:c.1958G>A MANE Select	NP_000234.1:p.Arg653His
NM_001198536.2:c.*162G>A	NP_001185465.2:n.*162G>A