Canonical Allele Identifier: CA7860235

Gene: MEFV

Linked Data

• ClinVar Variation Id: 527806
• ClinVar RCV Id: RCV000756332 ; RCV001083401 ; RCV002499046 ; RCV003126885 ; RCV003126886
• dbSNP Id: rs11466022
• ExAC: 16:3299599 C / T
• gnomAD v2: 16-3299599-C-T
• gnomAD v3: 16-3249599-C-T
• gnomAD v4: 16-3249599-C-T
• MyVariant Identifiers: chr16:g.3299599C>T (hg19) ; chr16:g.3249599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249599C>T , CM000678.2:g.3249599C>T	GRCh38
NC_000016.9:g.3299599C>T , CM000678.1:g.3299599C>T	GRCh37
NC_000016.8:g.3239600C>T	NCBI36
NG_007871.1:g.12029G>A , LRG_190:g.12029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1092G>A MANE Select	ENSP00000219596.1:p.Pro364=
ENST00000219596.5:c.1092G>A	ENSP00000219596.1:p.Pro364=
ENST00000339854.8:c.552G>A	ENSP00000339639.4:p.Pro184=
ENST00000536379.5:c.459G>A	ENSP00000445079.1:p.Pro153=
ENST00000536980.5:c.459G>A	ENSP00000444178.1:p.Pro153=
ENST00000537682.5:c.1092G>A	ENSP00000438611.1:p.Pro364=
ENST00000538326.5:c.1092G>A	ENSP00000437486.1:p.Pro364=
ENST00000539145.5:c.278-2353G>A	ENSP00000444471.1:n.278-2353G>A
ENST00000541159.5:c.459G>A	ENSP00000438711.1:p.Pro153=
ENST00000542898.5:c.1185G>A	ENSP00000444615.1:p.Pro395=
ENST00000570511.5:c.911-2353G>A	ENSP00000458312.1:n.911-2353G>A
ENST00000572244.5:c.278-3052G>A	ENSP00000461186.1:n.278-3052G>A
ENST00000574583.5:c.278-2353G>A	ENSP00000460269.1:n.278-2353G>A
ENST00000576315.5:c.278-2353G>A	ENSP00000460551.1:n.278-2353G>A
ENST00000621655.1:c.459G>A	ENSP00000481436.1:p.Pro153=
NM_000243.2:c.1092G>A , LRG_190t1:c.1092G>A	NP_000234.1:p.Pro364=
NM_001198536.1:c.459G>A	NP_001185465.1:p.Pro153=
XM_017023236.2:c.1092G>A	XP_016878725.1:p.Pro364=
XR_001751903.1:n.1281G>A
NM_000243.3:c.1092G>A MANE Select	NP_000234.1:p.Pro364=
NM_001198536.2:c.459G>A	NP_001185465.2:p.Pro153=