Canonical Allele Identifier: CA115610

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2557
• ClinVar RCV Id: RCV000002666 ; RCV000083696 ; RCV001562614 ; RCV003125827
• dbSNP Id: rs104895105
• MyVariant Identifiers: chr16:g.3297171G>A (hg19) ; chr16:g.3247171G>A (hg38)
• PubMed: PMID:14679589

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247171G>A , CM000678.2:g.3247171G>A	GRCh38
NC_000016.9:g.3297171G>A , CM000678.1:g.3297171G>A	GRCh37
NC_000016.8:g.3237172G>A	NCBI36
NG_007871.1:g.14457C>T , LRG_190:g.14457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1432C>T MANE Select	ENSP00000219596.1:p.His478Tyr
ENST00000219596.5:c.1432C>T	ENSP00000219596.1:p.His478Tyr
ENST00000339854.8:c.892C>T	ENSP00000339639.4:p.His298Tyr
ENST00000536379.5:c.799C>T	ENSP00000445079.1:p.His267Tyr
ENST00000536980.5:c.799C>T	ENSP00000444178.1:p.His267Tyr
ENST00000537682.5:c.1432C>T	ENSP00000438611.1:p.His478Tyr
ENST00000538326.5:c.*57C>T	ENSP00000437486.1:n.*57C>T
ENST00000539145.5:c.353C>T	ENSP00000444471.1:n.353C>T
ENST00000539154.1:n.797C>T
ENST00000541159.5:c.799C>T	ENSP00000438711.1:p.His267Tyr
ENST00000542898.5:c.1525C>T	ENSP00000444615.1:p.His509Tyr
ENST00000570511.5:c.986C>T	ENSP00000458312.1:n.986C>T
ENST00000572244.5:c.278-624C>T	ENSP00000461186.1:n.278-624C>T
ENST00000574583.5:c.353C>T	ENSP00000460269.1:n.353C>T
ENST00000576315.5:c.353C>T	ENSP00000460551.1:n.353C>T
ENST00000621655.1:c.799C>T	ENSP00000481436.1:p.His267Tyr
NM_000243.2:c.1432C>T , LRG_190t1:c.1432C>T	NP_000234.1:p.His478Tyr
NM_001198536.1:c.799C>T	NP_001185465.1:p.His267Tyr
XM_017023236.2:c.1429C>T	XP_016878725.1:p.His477Tyr
XR_001751903.1:n.1621C>T
NM_000243.3:c.1432C>T MANE Select	NP_000234.1:p.His478Tyr
NM_001198536.2:c.799C>T	NP_001185465.2:p.His267Tyr