Canonical Allele Identifier: CA7860129
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 2414425
ClinVar RCV Id: RCV003106758
dbSNP Id: rs104895083
gnomAD v2: 16-3297166-G-T
gnomAD v3: 16-3247166-G-T
gnomAD v4: 16-3247166-G-T
COSMIC: COSM282758

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3247166G>T , CM000678.2:g.3247166G>T GRCh38
NC_000016.9:g.3297166G>T , CM000678.1:g.3297166G>T GRCh37
NC_000016.8:g.3237167G>T NCBI36
NG_007871.1:g.14462C>A , LRG_190:g.14462C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000219596.6:c.1437C>A MANE Select ENSP00000219596.1:p.Phe479Leu
ENST00000219596.5:c.1437C>A ENSP00000219596.1:p.Phe479Leu
ENST00000339854.8:c.897C>A ENSP00000339639.4:p.Phe299Leu
ENST00000536379.5:c.804C>A ENSP00000445079.1:p.Phe268Leu
ENST00000536980.5:c.804C>A ENSP00000444178.1:p.Phe268Leu
ENST00000537682.5:c.1437C>A ENSP00000438611.1:p.Phe479Leu
ENST00000538326.5:c.*62C>A ENSP00000437486.1:n.*62C>A
ENST00000539145.5:c.358C>A ENSP00000444471.1:n.358C>A
ENST00000539154.1:n.802C>A
ENST00000541159.5:c.804C>A ENSP00000438711.1:p.Phe268Leu
ENST00000542898.5:c.1530C>A ENSP00000444615.1:p.Phe510Leu
ENST00000570511.5:c.991C>A ENSP00000458312.1:n.991C>A
ENST00000572244.5:c.278-619C>A ENSP00000461186.1:n.278-619C>A
ENST00000574583.5:c.358C>A ENSP00000460269.1:n.358C>A
ENST00000576315.5:c.358C>A ENSP00000460551.1:n.358C>A
ENST00000621655.1:c.804C>A ENSP00000481436.1:p.Phe268Leu
NM_000243.2:c.1437C>A , LRG_190t1:c.1437C>A NP_000234.1:p.Phe479Leu
NM_001198536.1:c.804C>A NP_001185465.1:p.Phe268Leu
XM_017023236.2:c.1434C>A XP_016878725.1:p.Phe478Leu
XR_001751903.1:n.1626C>A
NM_000243.3:c.1437C>A MANE Select NP_000234.1:p.Phe479Leu
NM_001198536.2:c.804C>A NP_001185465.2:p.Phe268Leu