Canonical Allele Identifier: CA394486148

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1478684
• ClinVar RCV Id: RCV001974306 ; RCV002492214 ; RCV003126061 ; RCV003126062
• dbSNP Id: rs749052818
• gnomAD v2: 16-3293409-A-G
• gnomAD v3: 16-3243409-A-G
• gnomAD v4: 16-3243409-A-G
• MyVariant Identifiers: chr16:g.3293409A>G (hg19) ; chr16:g.3243409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243409A>G , CM000678.2:g.3243409A>G	GRCh38
NC_000016.9:g.3293409A>G , CM000678.1:g.3293409A>G	GRCh37
NC_000016.8:g.3233410A>G	NCBI36
NG_007871.1:g.18219T>C , LRG_190:g.18219T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1199T>C
ENST00000219596.6:c.2078T>C MANE Select	ENSP00000219596.1:p.Met693Thr
ENST00000219596.5:c.2078T>C	ENSP00000219596.1:p.Met693Thr
ENST00000339854.8:c.1538T>C	ENSP00000339639.4:p.Met513Thr
ENST00000536379.5:c.1445T>C	ENSP00000445079.1:p.Met482Thr
ENST00000536980.5:c.*354T>C	ENSP00000444178.1:n.*354T>C
ENST00000537682.5:c.*354T>C	ENSP00000438611.1:n.*354T>C
ENST00000538326.5:c.*703T>C	ENSP00000437486.1:n.*703T>C
ENST00000539145.5:c.999T>C	ENSP00000444471.1:n.999T>C
ENST00000541159.5:c.1620T>C	ENSP00000438711.1:n.1620T>C
ENST00000542898.5:c.*354T>C	ENSP00000444615.1:n.*354T>C
ENST00000570511.5:c.1483T>C	ENSP00000458312.1:n.1483T>C
ENST00000572244.5:c.768T>C	ENSP00000461186.1:n.768T>C
ENST00000574583.5:c.850T>C	ENSP00000460269.1:n.850T>C
ENST00000576315.5:c.883T>C	ENSP00000460551.1:n.883T>C
ENST00000621655.1:c.1615T>C	ENSP00000481436.1:n.1615T>C
NM_000243.2:c.2078T>C , LRG_190t1:c.2078T>C	NP_000234.1:p.Met693Thr
NM_001198536.1:c.*282T>C	NP_001185465.1:n.*282T>C
XM_017023236.2:c.2075T>C	XP_016878725.1:p.Met692Thr
NM_000243.3:c.2078T>C MANE Select	NP_000234.1:p.Met693Thr
NM_001198536.2:c.*282T>C	NP_001185465.2:n.*282T>C