Canonical Allele Identifier: CA280547

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97502
• ClinVar RCV Id: RCV000083754
• dbSNP Id: rs104895216
• MyVariant Identifiers: chr16:g.3293259A>T (hg19) ; chr16:g.3243259A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243259A>T , CM000678.2:g.3243259A>T	GRCh38
NC_000016.9:g.3293259A>T , CM000678.1:g.3293259A>T	GRCh37
NC_000016.8:g.3233260A>T	NCBI36
NG_007871.1:g.18369T>A , LRG_190:g.18369T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1349T>A
ENST00000219596.6:c.2228T>A MANE Select	ENSP00000219596.1:p.Phe743Tyr
ENST00000219596.5:c.2228T>A	ENSP00000219596.1:p.Phe743Tyr
ENST00000339854.8:c.1688T>A	ENSP00000339639.4:p.Phe563Tyr
ENST00000536379.5:c.1595T>A	ENSP00000445079.1:p.Phe532Tyr
ENST00000536980.5:c.*504T>A	ENSP00000444178.1:n.*504T>A
ENST00000537682.5:c.*504T>A	ENSP00000438611.1:n.*504T>A
ENST00000538326.5:c.*853T>A	ENSP00000437486.1:n.*853T>A
ENST00000539145.5:c.1149T>A	ENSP00000444471.1:n.1149T>A
ENST00000541159.5:c.1770T>A	ENSP00000438711.1:n.1770T>A
ENST00000542898.5:c.*504T>A	ENSP00000444615.1:n.*504T>A
ENST00000570511.5:c.1633T>A	ENSP00000458312.1:n.1633T>A
ENST00000572244.5:c.918T>A	ENSP00000461186.1:n.918T>A
ENST00000574583.5:c.1000T>A	ENSP00000460269.1:n.1000T>A
ENST00000576315.5:c.1033T>A	ENSP00000460551.1:n.1033T>A
ENST00000621655.1:c.1765T>A	ENSP00000481436.1:n.1765T>A
NM_000243.2:c.2228T>A , LRG_190t1:c.2228T>A	NP_000234.1:p.Phe743Tyr
NM_001198536.1:c.*432T>A	NP_001185465.1:n.*432T>A
XM_017023236.2:c.2225T>A	XP_016878725.1:p.Phe742Tyr
NM_000243.3:c.2228T>A MANE Select	NP_000234.1:p.Phe743Tyr
NM_001198536.2:c.*432T>A	NP_001185465.2:n.*432T>A