Canonical Allele Identifier: CA280684

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97555
• ClinVar RCV Id: RCV000083807 ; RCV001701500 ; RCV003126496 ; RCV003126495
• dbSNP Id: rs104895110
• ExAC: 16:3299736 C / T
• gnomAD v2: 16-3299736-C-T
• gnomAD v3: 16-3249736-C-T
• gnomAD v4: 16-3249736-C-T
• COSMIC: COSM1708671 ; COSM1708672
• MyVariant Identifiers: chr16:g.3299736C>T (hg19) ; chr16:g.3249736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249736C>T , CM000678.2:g.3249736C>T	GRCh38
NC_000016.9:g.3299736C>T , CM000678.1:g.3299736C>T	GRCh37
NC_000016.8:g.3239737C>T	NCBI36
NG_007871.1:g.11892G>A , LRG_190:g.11892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.955G>A MANE Select	ENSP00000219596.1:p.Glu319Lys
ENST00000219596.5:c.955G>A	ENSP00000219596.1:p.Glu319Lys
ENST00000339854.8:c.415G>A	ENSP00000339639.4:p.Glu139Lys
ENST00000536379.5:c.322G>A	ENSP00000445079.1:p.Glu108Lys
ENST00000536980.5:c.322G>A	ENSP00000444178.1:p.Glu108Lys
ENST00000537682.5:c.955G>A	ENSP00000438611.1:p.Glu319Lys
ENST00000538326.5:c.955G>A	ENSP00000437486.1:p.Glu319Lys
ENST00000539145.5:c.278-2490G>A	ENSP00000444471.1:n.278-2490G>A
ENST00000541159.5:c.322G>A	ENSP00000438711.1:p.Glu108Lys
ENST00000542898.5:c.1048G>A	ENSP00000444615.1:p.Glu350Lys
ENST00000570511.5:c.911-2490G>A	ENSP00000458312.1:n.911-2490G>A
ENST00000572244.5:c.278-3189G>A	ENSP00000461186.1:n.278-3189G>A
ENST00000574583.5:c.278-2490G>A	ENSP00000460269.1:n.278-2490G>A
ENST00000576315.5:c.278-2490G>A	ENSP00000460551.1:n.278-2490G>A
ENST00000621655.1:c.322G>A	ENSP00000481436.1:p.Glu108Lys
NM_000243.2:c.955G>A , LRG_190t1:c.955G>A	NP_000234.1:p.Glu319Lys
NM_001198536.1:c.322G>A	NP_001185465.1:p.Glu108Lys
XM_017023236.2:c.955G>A	XP_016878725.1:p.Glu319Lys
XR_001751903.1:n.1144G>A
NM_000243.3:c.955G>A MANE Select	NP_000234.1:p.Glu319Lys
NM_001198536.2:c.322G>A	NP_001185465.2:p.Glu108Lys