Canonical Allele Identifier: CA280536
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 97498
ClinVar RCV Id: RCV000083750
dbSNP Id: rs104895192
gnomAD v2: 16-3293338-G-T
gnomAD v3: 16-3243338-G-T
gnomAD v4: 16-3243338-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243338G>T , CM000678.2:g.3243338G>T GRCh38
NC_000016.9:g.3293338G>T , CM000678.1:g.3293338G>T GRCh37
NC_000016.8:g.3233339G>T NCBI36
NG_007871.1:g.18290C>A , LRG_190:g.18290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1270C>A
ENST00000219596.6:c.2149C>A MANE Select ENSP00000219596.1:p.Arg717Ser
ENST00000219596.5:c.2149C>A ENSP00000219596.1:p.Arg717Ser
ENST00000339854.8:c.1609C>A ENSP00000339639.4:p.Arg537Ser
ENST00000536379.5:c.1516C>A ENSP00000445079.1:p.Arg506Ser
ENST00000536980.5:c.*425C>A ENSP00000444178.1:n.*425C>A
ENST00000537682.5:c.*425C>A ENSP00000438611.1:n.*425C>A
ENST00000538326.5:c.*774C>A ENSP00000437486.1:n.*774C>A
ENST00000539145.5:c.1070C>A ENSP00000444471.1:n.1070C>A
ENST00000541159.5:c.1691C>A ENSP00000438711.1:n.1691C>A
ENST00000542898.5:c.*425C>A ENSP00000444615.1:n.*425C>A
ENST00000570511.5:c.1554C>A ENSP00000458312.1:n.1554C>A
ENST00000572244.5:c.839C>A ENSP00000461186.1:n.839C>A
ENST00000574583.5:c.921C>A ENSP00000460269.1:n.921C>A
ENST00000576315.5:c.954C>A ENSP00000460551.1:n.954C>A
ENST00000621655.1:c.1686C>A ENSP00000481436.1:n.1686C>A
NM_000243.2:c.2149C>A , LRG_190t1:c.2149C>A NP_000234.1:p.Arg717Ser
NM_001198536.1:c.*353C>A NP_001185465.1:n.*353C>A
XM_017023236.2:c.2146C>A XP_016878725.1:p.Arg716Ser
NM_000243.3:c.2149C>A MANE Select NP_000234.1:p.Arg717Ser
NM_001198536.2:c.*353C>A NP_001185465.2:n.*353C>A