Canonical Allele Identifier: CA7860134

Gene: MEFV

Linked Data

• ClinVar Variation Id: 319113
• ClinVar RCV Id: RCV000336657 ; RCV002263010 ; RCV002468940 ; RCV002487408 ; RCV003126671 ; RCV003126670
• dbSNP Id: rs778686119
• ExAC: 16:3297197 A / G
• gnomAD v2: 16-3297197-A-G
• gnomAD v3: 16-3247197-A-G
• gnomAD v4: 16-3247197-A-G
• MyVariant Identifiers: chr16:g.3297197A>G (hg19) ; chr16:g.3247197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247197A>G , CM000678.2:g.3247197A>G	GRCh38
NC_000016.9:g.3297197A>G , CM000678.1:g.3297197A>G	GRCh37
NC_000016.8:g.3237198A>G	NCBI36
NG_007871.1:g.14431T>C , LRG_190:g.14431T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1406T>C MANE Select	ENSP00000219596.1:p.Val469Ala
ENST00000219596.5:c.1406T>C	ENSP00000219596.1:p.Val469Ala
ENST00000339854.8:c.866T>C	ENSP00000339639.4:p.Val289Ala
ENST00000536379.5:c.773T>C	ENSP00000445079.1:p.Val258Ala
ENST00000536980.5:c.773T>C	ENSP00000444178.1:p.Val258Ala
ENST00000537682.5:c.1406T>C	ENSP00000438611.1:p.Val469Ala
ENST00000538326.5:c.*31T>C	ENSP00000437486.1:n.*31T>C
ENST00000539145.5:c.327T>C	ENSP00000444471.1:n.327T>C
ENST00000539154.1:n.771T>C
ENST00000541159.5:c.773T>C	ENSP00000438711.1:p.Val258Ala
ENST00000542898.5:c.1499T>C	ENSP00000444615.1:p.Val500Ala
ENST00000570511.5:c.960T>C	ENSP00000458312.1:n.960T>C
ENST00000572244.5:c.278-650T>C	ENSP00000461186.1:n.278-650T>C
ENST00000574583.5:c.327T>C	ENSP00000460269.1:n.327T>C
ENST00000576315.5:c.327T>C	ENSP00000460551.1:n.327T>C
ENST00000621655.1:c.773T>C	ENSP00000481436.1:p.Val258Ala
NM_000243.2:c.1406T>C , LRG_190t1:c.1406T>C	NP_000234.1:p.Val469Ala
NM_001198536.1:c.773T>C	NP_001185465.1:p.Val258Ala
XM_017023236.2:c.1403T>C	XP_016878725.1:p.Val468Ala
XR_001751903.1:n.1595T>C
NM_000243.3:c.1406T>C MANE Select	NP_000234.1:p.Val469Ala
NM_001198536.2:c.773T>C	NP_001185465.2:p.Val258Ala