Canonical Allele Identifier: CA7859964
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs766750849
gnomAD v2: 16-3294006-C-T
gnomAD v3: 16-3244006-C-T
gnomAD v4: 16-3244006-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3244006C>T , CM000678.2:g.3244006C>T GRCh38
NC_000016.9:g.3294006C>T , CM000678.1:g.3294006C>T GRCh37
NC_000016.8:g.3234007C>T NCBI36
NG_007871.1:g.17622G>A , LRG_190:g.17622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.881-114G>A
ENST00000219596.6:c.1760-114G>A MANE Select ENSP00000219596.1:n.1760-114G>A
ENST00000219596.5:c.1760-114G>A ENSP00000219596.1:n.1760-114G>A
ENST00000339854.8:c.1220-114G>A ENSP00000339639.4:n.1220-114G>A
ENST00000536379.5:c.1127-114G>A ENSP00000445079.1:n.1127-114G>A
ENST00000536980.5:c.*36-114G>A ENSP00000444178.1:n.*36-114G>A
ENST00000537682.5:c.*36-114G>A ENSP00000438611.1:n.*36-114G>A
ENST00000538326.5:c.*385-114G>A ENSP00000437486.1:n.*385-114G>A
ENST00000539145.5:c.681-114G>A ENSP00000444471.1:n.681-114G>A
ENST00000541159.5:c.1188G>A ENSP00000438711.1:p.Met396Ile
ENST00000542898.5:c.*36-114G>A ENSP00000444615.1:n.*36-114G>A
ENST00000570511.5:c.1165-114G>A ENSP00000458312.1:n.1165-114G>A
ENST00000572244.5:c.450-114G>A ENSP00000461186.1:n.450-114G>A
ENST00000574583.5:c.532-114G>A ENSP00000460269.1:n.532-114G>A
ENST00000576315.5:c.565-114G>A ENSP00000460551.1:n.565-114G>A
ENST00000621655.1:c.1188G>A ENSP00000481436.1:p.Met396Ile
NM_000243.2:c.1760-114G>A , LRG_190t1:c.1760-114G>A NP_000234.1:n.1760-114G>A
NM_001198536.1:c.1188G>A NP_001185465.1:p.Met396Ile
XM_017023236.2:c.1757-114G>A XP_016878725.1:n.1757-114G>A
XR_001751903.1:n.2067-114G>A
NM_000243.3:c.1760-114G>A MANE Select NP_000234.1:n.1760-114G>A
NM_001198536.2:c.1188G>A NP_001185465.2:p.Met396Ile