Canonical Allele Identifier: CA973870897

Gene: MEFV

Linked Data

• dbSNP Id: rs1958904473
• gnomAD v3: 16-3244175-A-G
• gnomAD v4: 16-3244175-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244175A>G , CM000678.2:g.3244175A>G	GRCh38
NC_000016.9:g.3294175A>G , CM000678.1:g.3294175A>G	GRCh37
NC_000016.8:g.3234176A>G	NCBI36
NG_007871.1:g.17453T>C , LRG_190:g.17453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.880+79T>C
ENST00000219596.6:c.1759+79T>C MANE Select	ENSP00000219596.1:n.1759+79T>C
ENST00000219596.5:c.1759+79T>C	ENSP00000219596.1:n.1759+79T>C
ENST00000339854.8:c.1219+79T>C	ENSP00000339639.4:n.1219+79T>C
ENST00000536379.5:c.1126+79T>C	ENSP00000445079.1:n.1126+79T>C
ENST00000536980.5:c.1205T>C	ENSP00000444178.1:p.Ile402Thr
ENST00000537682.5:c.1838T>C	ENSP00000438611.1:p.Ile613Thr
ENST00000538326.5:c.*384+79T>C	ENSP00000437486.1:n.*384+79T>C
ENST00000539145.5:c.680+79T>C	ENSP00000444471.1:n.680+79T>C
ENST00000541159.5:c.1126+79T>C	ENSP00000438711.1:n.1126+79T>C
ENST00000542898.5:c.1931T>C	ENSP00000444615.1:p.Ile644Thr
ENST00000570511.5:c.1165-283T>C	ENSP00000458312.1:n.1165-283T>C
ENST00000572244.5:c.449+79T>C	ENSP00000461186.1:n.449+79T>C
ENST00000574583.5:c.532-283T>C	ENSP00000460269.1:n.532-283T>C
ENST00000576315.5:c.564+79T>C	ENSP00000460551.1:n.564+79T>C
ENST00000621655.1:c.1126+79T>C	ENSP00000481436.1:n.1126+79T>C
NM_000243.2:c.1759+79T>C , LRG_190t1:c.1759+79T>C	NP_000234.1:n.1759+79T>C
NM_001198536.1:c.1126+79T>C	NP_001185465.1:n.1126+79T>C
XM_017023236.2:c.1756+79T>C	XP_016878725.1:n.1756+79T>C
XR_001751903.1:n.2027T>C
NM_000243.3:c.1759+79T>C MANE Select	NP_000234.1:n.1759+79T>C
NM_001198536.2:c.1126+79T>C	NP_001185465.2:n.1126+79T>C