Canonical Allele Identifier: CA493383846

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2743710
• ClinVar RCV Id: RCV003497646
• gnomAD v4: 16-3247184-C-T
• COSMIC: COSM3509373 ; COSM3509374
• MyVariant Identifiers: chr16:g.3297184C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247184C>T , CM000678.2:g.3247184C>T	GRCh38
NC_000016.9:g.3297184C>T , CM000678.1:g.3297184C>T	GRCh37
NC_000016.8:g.3237185C>T	NCBI36
NG_007871.1:g.14444G>A , LRG_190:g.14444G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1419G>A MANE Select	ENSP00000219596.1:p.Leu473=
ENST00000219596.5:c.1419G>A	ENSP00000219596.1:p.Leu473=
ENST00000339854.8:c.879G>A	ENSP00000339639.4:p.Leu293=
ENST00000536379.5:c.786G>A	ENSP00000445079.1:p.Leu262=
ENST00000536980.5:c.786G>A	ENSP00000444178.1:p.Leu262=
ENST00000537682.5:c.1419G>A	ENSP00000438611.1:p.Leu473=
ENST00000538326.5:c.*44G>A	ENSP00000437486.1:n.*44G>A
ENST00000539145.5:c.340G>A	ENSP00000444471.1:n.340G>A
ENST00000539154.1:n.784G>A
ENST00000541159.5:c.786G>A	ENSP00000438711.1:p.Leu262=
ENST00000542898.5:c.1512G>A	ENSP00000444615.1:p.Leu504=
ENST00000570511.5:c.973G>A	ENSP00000458312.1:n.973G>A
ENST00000572244.5:c.278-637G>A	ENSP00000461186.1:n.278-637G>A
ENST00000574583.5:c.340G>A	ENSP00000460269.1:n.340G>A
ENST00000576315.5:c.340G>A	ENSP00000460551.1:n.340G>A
ENST00000621655.1:c.786G>A	ENSP00000481436.1:p.Leu262=
NM_000243.2:c.1419G>A , LRG_190t1:c.1419G>A	NP_000234.1:p.Leu473=
NM_001198536.1:c.786G>A	NP_001185465.1:p.Leu262=
XM_017023236.2:c.1416G>A	XP_016878725.1:p.Leu472=
XR_001751903.1:n.1608G>A
NM_000243.3:c.1419G>A MANE Select	NP_000234.1:p.Leu473=
NM_001198536.2:c.786G>A	NP_001185465.2:p.Leu262=