Canonical Allele Identifier: CA2631334124

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244198-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244198A>C , CM000678.2:g.3244198A>C	GRCh38
NC_000016.9:g.3294198A>C , CM000678.1:g.3294198A>C	GRCh37
NC_000016.8:g.3234199A>C	NCBI36
NG_007871.1:g.17430T>G , LRG_190:g.17430T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+56T>G
ENST00000219596.6:c.1759+56T>G MANE Select	ENSP00000219596.1:n.1759+56T>G
ENST00000219596.5:c.1759+56T>G	ENSP00000219596.1:n.1759+56T>G
ENST00000339854.8:c.1219+56T>G	ENSP00000339639.4:n.1219+56T>G
ENST00000536379.5:c.1126+56T>G	ENSP00000445079.1:n.1126+56T>G
ENST00000536980.5:c.1182T>G	ENSP00000444178.1:p.Cys394Trp
ENST00000537682.5:c.1815T>G	ENSP00000438611.1:p.Cys605Trp
ENST00000538326.5:c.*384+56T>G	ENSP00000437486.1:n.*384+56T>G
ENST00000539145.5:c.680+56T>G	ENSP00000444471.1:n.680+56T>G
ENST00000541159.5:c.1126+56T>G	ENSP00000438711.1:n.1126+56T>G
ENST00000542898.5:c.1908T>G	ENSP00000444615.1:p.Cys636Trp
ENST00000570511.5:c.1165-306T>G	ENSP00000458312.1:n.1165-306T>G
ENST00000572244.5:c.449+56T>G	ENSP00000461186.1:n.449+56T>G
ENST00000574583.5:c.532-306T>G	ENSP00000460269.1:n.532-306T>G
ENST00000576315.5:c.564+56T>G	ENSP00000460551.1:n.564+56T>G
ENST00000621655.1:c.1126+56T>G	ENSP00000481436.1:n.1126+56T>G
NM_000243.2:c.1759+56T>G , LRG_190t1:c.1759+56T>G	NP_000234.1:n.1759+56T>G
NM_001198536.1:c.1126+56T>G	NP_001185465.1:n.1126+56T>G
XM_017023236.2:c.1756+56T>G	XP_016878725.1:n.1756+56T>G
XR_001751903.1:n.2004T>G
NM_000243.3:c.1759+56T>G MANE Select	NP_000234.1:n.1759+56T>G
NM_001198536.2:c.1126+56T>G	NP_001185465.2:n.1126+56T>G