Canonical Allele Identifier: CA280639
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 97537
dbSNP Id: rs104895080
gnomAD v2: 16-3304380-C-T
gnomAD v3: 16-3254380-C-T
gnomAD v4: 16-3254380-C-T
COSMIC: COSM970394

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254380C>T , CM000678.2:g.3254380C>T GRCh38
NC_000016.9:g.3304380C>T , CM000678.1:g.3304380C>T GRCh37
NC_000016.8:g.3244381C>T NCBI36
NG_007871.1:g.7248G>A , LRG_190:g.7248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.688G>A MANE Select ENSP00000219596.1:p.Glu230Lys
ENST00000219596.5:c.688G>A ENSP00000219596.1:p.Glu230Lys
ENST00000339854.8:c.277+1931G>A ENSP00000339639.4:n.277+1931G>A
ENST00000536379.5:c.277+1931G>A ENSP00000445079.1:n.277+1931G>A
ENST00000536980.5:c.277+1931G>A ENSP00000444178.1:n.277+1931G>A
ENST00000537682.5:c.688G>A ENSP00000438611.1:p.Glu230Lys
ENST00000538326.5:c.688G>A ENSP00000437486.1:p.Glu230Lys
ENST00000539145.5:c.277+1931G>A ENSP00000444471.1:n.277+1931G>A
ENST00000541159.5:c.277+1931G>A ENSP00000438711.1:n.277+1931G>A
ENST00000542898.5:c.688G>A ENSP00000444615.1:p.Glu230Lys
ENST00000570511.5:c.688G>A ENSP00000458312.1:p.Glu230Lys
ENST00000572244.5:c.277+1931G>A ENSP00000461186.1:n.277+1931G>A
ENST00000574583.5:c.277+1931G>A ENSP00000460269.1:n.277+1931G>A
ENST00000576315.5:c.277+1931G>A ENSP00000460551.1:n.277+1931G>A
ENST00000621655.1:c.277+1931G>A ENSP00000481436.1:n.277+1931G>A
NM_000243.2:c.688G>A , LRG_190t1:c.688G>A NP_000234.1:p.Glu230Lys
NM_001198536.1:c.277+1931G>A NP_001185465.1:n.277+1931G>A
XM_017023236.2:c.688G>A XP_016878725.1:p.Glu230Lys
XR_001751903.1:n.877G>A
NM_000243.3:c.688G>A MANE Select NP_000234.1:p.Glu230Lys
NM_001198536.2:c.277+1931G>A NP_001185465.2:n.277+1931G>A