Canonical Allele Identifier: CA394487097

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1522096
• ClinVar RCV Id: RCV002028045
• dbSNP Id: rs2141664988
• gnomAD v4: 16-3243496-G-A
• MyVariant Identifiers: chr16:g.3293496G>A (hg19) ; chr16:g.3243496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243496G>A , CM000678.2:g.3243496G>A	GRCh38
NC_000016.9:g.3293496G>A , CM000678.1:g.3293496G>A	GRCh37
NC_000016.8:g.3233497G>A	NCBI36
NG_007871.1:g.18132C>T , LRG_190:g.18132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1112C>T
ENST00000219596.6:c.1991C>T MANE Select	ENSP00000219596.1:p.Ala664Val
ENST00000219596.5:c.1991C>T	ENSP00000219596.1:p.Ala664Val
ENST00000339854.8:c.1451C>T	ENSP00000339639.4:p.Ala484Val
ENST00000536379.5:c.1358C>T	ENSP00000445079.1:p.Ala453Val
ENST00000536980.5:c.*267C>T	ENSP00000444178.1:n.*267C>T
ENST00000537682.5:c.*267C>T	ENSP00000438611.1:n.*267C>T
ENST00000538326.5:c.*616C>T	ENSP00000437486.1:n.*616C>T
ENST00000539145.5:c.912C>T	ENSP00000444471.1:n.912C>T
ENST00000541159.5:c.1533C>T	ENSP00000438711.1:n.1533C>T
ENST00000542898.5:c.*267C>T	ENSP00000444615.1:n.*267C>T
ENST00000570511.5:c.1396C>T	ENSP00000458312.1:n.1396C>T
ENST00000572244.5:c.681C>T	ENSP00000461186.1:n.681C>T
ENST00000574583.5:c.763C>T	ENSP00000460269.1:n.763C>T
ENST00000576315.5:c.796C>T	ENSP00000460551.1:n.796C>T
ENST00000621655.1:c.1528C>T	ENSP00000481436.1:n.1528C>T
NM_000243.2:c.1991C>T , LRG_190t1:c.1991C>T	NP_000234.1:p.Ala664Val
NM_001198536.1:c.*195C>T	NP_001185465.1:n.*195C>T
XM_017023236.2:c.1988C>T	XP_016878725.1:p.Ala663Val
NM_000243.3:c.1991C>T MANE Select	NP_000234.1:p.Ala664Val
NM_001198536.2:c.*195C>T	NP_001185465.2:n.*195C>T