Canonical Allele Identifier: CA280112
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 2550
dbSNP Id: rs28940580
gnomAD v3: 16-3243447-C-T
gnomAD v4: 16-3243447-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243447C>T , CM000678.2:g.3243447C>T GRCh38
NC_000016.9:g.3293447C>T , CM000678.1:g.3293447C>T GRCh37
NC_000016.8:g.3233448C>T NCBI36
NG_007871.1:g.18181G>A , LRG_190:g.18181G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1161G>A
ENST00000219596.6:c.2040G>A MANE Select ENSP00000219596.1:p.Met680Ile
ENST00000219596.5:c.2040G>A ENSP00000219596.1:p.Met680Ile
ENST00000339854.8:c.1500G>A ENSP00000339639.4:p.Met500Ile
ENST00000536379.5:c.1407G>A ENSP00000445079.1:p.Met469Ile
ENST00000536980.5:c.*316G>A ENSP00000444178.1:n.*316G>A
ENST00000537682.5:c.*316G>A ENSP00000438611.1:n.*316G>A
ENST00000538326.5:c.*665G>A ENSP00000437486.1:n.*665G>A
ENST00000539145.5:c.961G>A ENSP00000444471.1:n.961G>A
ENST00000541159.5:c.1582G>A ENSP00000438711.1:n.1582G>A
ENST00000542898.5:c.*316G>A ENSP00000444615.1:n.*316G>A
ENST00000570511.5:c.1445G>A ENSP00000458312.1:n.1445G>A
ENST00000572244.5:c.730G>A ENSP00000461186.1:n.730G>A
ENST00000574583.5:c.812G>A ENSP00000460269.1:n.812G>A
ENST00000576315.5:c.845G>A ENSP00000460551.1:n.845G>A
ENST00000621655.1:c.1577G>A ENSP00000481436.1:n.1577G>A
NM_000243.2:c.2040G>A , LRG_190t1:c.2040G>A NP_000234.1:p.Met680Ile
NM_001198536.1:c.*244G>A NP_001185465.1:n.*244G>A
XM_017023236.2:c.2037G>A XP_016878725.1:p.Met679Ile
NM_000243.3:c.2040G>A MANE Select NP_000234.1:p.Met680Ile
NM_001198536.2:c.*244G>A NP_001185465.2:n.*244G>A