Canonical Allele Identifier: CA394485715

Gene: MEFV

Linked Data

• ClinVar Variation Id: 803179
• ClinVar RCV Id: RCV000989474
• dbSNP Id: rs1596349932
• MyVariant Identifiers: chr16:g.3293340T>A (hg19) ; chr16:g.3243340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243340T>A , CM000678.2:g.3243340T>A	GRCh38
NC_000016.9:g.3293340T>A , CM000678.1:g.3293340T>A	GRCh37
NC_000016.8:g.3233341T>A	NCBI36
NG_007871.1:g.18288A>T , LRG_190:g.18288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1268A>T
ENST00000219596.6:c.2147A>T MANE Select	ENSP00000219596.1:p.Lys716Met
ENST00000219596.5:c.2147A>T	ENSP00000219596.1:p.Lys716Met
ENST00000339854.8:c.1607A>T	ENSP00000339639.4:p.Lys536Met
ENST00000536379.5:c.1514A>T	ENSP00000445079.1:p.Lys505Met
ENST00000536980.5:c.*423A>T	ENSP00000444178.1:n.*423A>T
ENST00000537682.5:c.*423A>T	ENSP00000438611.1:n.*423A>T
ENST00000538326.5:c.*772A>T	ENSP00000437486.1:n.*772A>T
ENST00000539145.5:c.1068A>T	ENSP00000444471.1:n.1068A>T
ENST00000541159.5:c.1689A>T	ENSP00000438711.1:n.1689A>T
ENST00000542898.5:c.*423A>T	ENSP00000444615.1:n.*423A>T
ENST00000570511.5:c.1552A>T	ENSP00000458312.1:n.1552A>T
ENST00000572244.5:c.837A>T	ENSP00000461186.1:n.837A>T
ENST00000574583.5:c.919A>T	ENSP00000460269.1:n.919A>T
ENST00000576315.5:c.952A>T	ENSP00000460551.1:n.952A>T
ENST00000621655.1:c.1684A>T	ENSP00000481436.1:n.1684A>T
NM_000243.2:c.2147A>T , LRG_190t1:c.2147A>T	NP_000234.1:p.Lys716Met
NM_001198536.1:c.*351A>T	NP_001185465.1:n.*351A>T
XM_017023236.2:c.2144A>T	XP_016878725.1:p.Lys715Met
NM_000243.3:c.2147A>T MANE Select	NP_000234.1:p.Lys716Met
NM_001198536.2:c.*351A>T	NP_001185465.2:n.*351A>T