Canonical Allele Identifier: CA7859929

Gene: MEFV

Linked Data

• ClinVar Variation Id: 493169
• ClinVar RCV Id: RCV000585564 ; RCV002263816 ; RCV001401924
• dbSNP Id: rs377657099
• ExAC: 16:3293873 A / T
• gnomAD v2: 16-3293873-A-T
• gnomAD v3: 16-3243873-A-T
• gnomAD v4: 16-3243873-A-T
• MyVariant Identifiers: chr16:g.3293873A>T (hg19) ; chr16:g.3243873A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243873A>T , CM000678.2:g.3243873A>T	GRCh38
NC_000016.9:g.3293873A>T , CM000678.1:g.3293873A>T	GRCh37
NC_000016.8:g.3233874A>T	NCBI36
NG_007871.1:g.17755T>A , LRG_190:g.17755T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.900T>A
ENST00000219596.6:c.1779T>A MANE Select	ENSP00000219596.1:p.Ala593=
ENST00000219596.5:c.1779T>A	ENSP00000219596.1:p.Ala593=
ENST00000339854.8:c.1239T>A	ENSP00000339639.4:p.Ala413=
ENST00000536379.5:c.1146T>A	ENSP00000445079.1:p.Ala382=
ENST00000536980.5:c.*55T>A	ENSP00000444178.1:n.*55T>A
ENST00000537682.5:c.*55T>A	ENSP00000438611.1:n.*55T>A
ENST00000538326.5:c.*404T>A	ENSP00000437486.1:n.*404T>A
ENST00000539145.5:c.700T>A	ENSP00000444471.1:n.700T>A
ENST00000541159.5:c.1321T>A	ENSP00000438711.1:p.Ser441Thr
ENST00000542898.5:c.*55T>A	ENSP00000444615.1:n.*55T>A
ENST00000570511.5:c.1184T>A	ENSP00000458312.1:n.1184T>A
ENST00000572244.5:c.469T>A	ENSP00000461186.1:n.469T>A
ENST00000574583.5:c.551T>A	ENSP00000460269.1:n.551T>A
ENST00000576315.5:c.584T>A	ENSP00000460551.1:n.584T>A
ENST00000621655.1:c.1316T>A	ENSP00000481436.1:n.1316T>A
NM_000243.2:c.1779T>A , LRG_190t1:c.1779T>A	NP_000234.1:p.Ala593=
NM_001198536.1:c.1321T>A	NP_001185465.1:p.Ser441Thr
XM_017023236.2:c.1776T>A	XP_016878725.1:p.Ala592=
XR_001751903.1:n.2086T>A
NM_000243.3:c.1779T>A MANE Select	NP_000234.1:p.Ala593=
NM_001198536.2:c.1321T>A	NP_001185465.2:p.Ser441Thr