Canonical Allele Identifier: CA280406

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97446
• ClinVar RCV Id: RCV000083698 ; RCV000126746 ; RCV000590572 ; RCV002390250 ; RCV002262632
• dbSNP Id: rs61732424
• ExAC: 16:3297136 C / T
• gnomAD v2: 16-3297136-C-T
• gnomAD v3: 16-3247136-C-T
• gnomAD v4: 16-3247136-C-T
• MyVariant Identifiers: chr16:g.3297136C>T (hg19) ; chr16:g.3247136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247136C>T , CM000678.2:g.3247136C>T	GRCh38
NC_000016.9:g.3297136C>T , CM000678.1:g.3297136C>T	GRCh37
NC_000016.8:g.3237137C>T	NCBI36
NG_007871.1:g.14492G>A , LRG_190:g.14492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1467G>A MANE Select	ENSP00000219596.1:p.Gln489=
ENST00000219596.5:c.1467G>A	ENSP00000219596.1:p.Gln489=
ENST00000339854.8:c.927G>A	ENSP00000339639.4:p.Gln309=
ENST00000536379.5:c.834G>A	ENSP00000445079.1:p.Gln278=
ENST00000536980.5:c.834G>A	ENSP00000444178.1:p.Gln278=
ENST00000537682.5:c.1467G>A	ENSP00000438611.1:p.Gln489=
ENST00000538326.5:c.*92G>A	ENSP00000437486.1:n.*92G>A
ENST00000539145.5:c.388G>A	ENSP00000444471.1:n.388G>A
ENST00000539154.1:n.832G>A
ENST00000541159.5:c.834G>A	ENSP00000438711.1:p.Gln278=
ENST00000542898.5:c.1560G>A	ENSP00000444615.1:p.Gln520=
ENST00000570511.5:c.1021G>A	ENSP00000458312.1:n.1021G>A
ENST00000572244.5:c.278-589G>A	ENSP00000461186.1:n.278-589G>A
ENST00000574583.5:c.388G>A	ENSP00000460269.1:n.388G>A
ENST00000576315.5:c.388G>A	ENSP00000460551.1:n.388G>A
ENST00000621655.1:c.834G>A	ENSP00000481436.1:p.Gln278=
NM_000243.2:c.1467G>A , LRG_190t1:c.1467G>A	NP_000234.1:p.Gln489=
NM_001198536.1:c.834G>A	NP_001185465.1:p.Gln278=
XM_017023236.2:c.1464G>A	XP_016878725.1:p.Gln488=
XR_001751903.1:n.1656G>A
NM_000243.3:c.1467G>A MANE Select	NP_000234.1:p.Gln489=
NM_001198536.2:c.834G>A	NP_001185465.2:p.Gln278=