Canonical Allele Identifier: CA280517

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97491
• ClinVar RCV Id: RCV000083743 ; RCV000126739 ; RCV003126443 ; RCV003126444 ; RCV003415854
• dbSNP Id: rs104895095
• ExAC: 16:3293384 C / T
• gnomAD v2: 16-3293384-C-T
• gnomAD v3: 16-3243384-C-T
• gnomAD v4: 16-3243384-C-T
• COSMIC: COSM435200
• MyVariant Identifiers: chr16:g.3293384C>T (hg19) ; chr16:g.3243384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243384C>T , CM000678.2:g.3243384C>T	GRCh38
NC_000016.9:g.3293384C>T , CM000678.1:g.3293384C>T	GRCh37
NC_000016.8:g.3233385C>T	NCBI36
NG_007871.1:g.18244G>A , LRG_190:g.18244G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1224G>A
ENST00000219596.6:c.2103G>A MANE Select	ENSP00000219596.1:p.Ala701=
ENST00000219596.5:c.2103G>A	ENSP00000219596.1:p.Ala701=
ENST00000339854.8:c.1563G>A	ENSP00000339639.4:p.Ala521=
ENST00000536379.5:c.1470G>A	ENSP00000445079.1:p.Ala490=
ENST00000536980.5:c.*379G>A	ENSP00000444178.1:n.*379G>A
ENST00000537682.5:c.*379G>A	ENSP00000438611.1:n.*379G>A
ENST00000538326.5:c.*728G>A	ENSP00000437486.1:n.*728G>A
ENST00000539145.5:c.1024G>A	ENSP00000444471.1:n.1024G>A
ENST00000541159.5:c.1645G>A	ENSP00000438711.1:n.1645G>A
ENST00000542898.5:c.*379G>A	ENSP00000444615.1:n.*379G>A
ENST00000570511.5:c.1508G>A	ENSP00000458312.1:n.1508G>A
ENST00000572244.5:c.793G>A	ENSP00000461186.1:n.793G>A
ENST00000574583.5:c.875G>A	ENSP00000460269.1:n.875G>A
ENST00000576315.5:c.908G>A	ENSP00000460551.1:n.908G>A
ENST00000621655.1:c.1640G>A	ENSP00000481436.1:n.1640G>A
NM_000243.2:c.2103G>A , LRG_190t1:c.2103G>A	NP_000234.1:p.Ala701=
NM_001198536.1:c.*307G>A	NP_001185465.1:n.*307G>A
XM_017023236.2:c.2100G>A	XP_016878725.1:p.Ala700=
NM_000243.3:c.2103G>A MANE Select	NP_000234.1:p.Ala701=
NM_001198536.2:c.*307G>A	NP_001185465.2:n.*307G>A