Canonical Allele Identifier: CA394484916

Gene: MEFV

Linked Data

• dbSNP Id: rs1567231282
• gnomAD v4: 16-3243232-A-C
• MyVariant Identifiers: chr16:g.3293232A>C (hg19) ; chr16:g.3243232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243232A>C , CM000678.2:g.3243232A>C	GRCh38
NC_000016.9:g.3293232A>C , CM000678.1:g.3293232A>C	GRCh37
NC_000016.8:g.3233233A>C	NCBI36
NG_007871.1:g.18396T>G , LRG_190:g.18396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1376T>G
ENST00000219596.6:c.2255T>G MANE Select	ENSP00000219596.1:p.Leu752Arg
ENST00000219596.5:c.2255T>G	ENSP00000219596.1:p.Leu752Arg
ENST00000339854.8:c.1715T>G	ENSP00000339639.4:p.Leu572Arg
ENST00000536379.5:c.1622T>G	ENSP00000445079.1:p.Leu541Arg
ENST00000536980.5:c.*531T>G	ENSP00000444178.1:n.*531T>G
ENST00000537682.5:c.*531T>G	ENSP00000438611.1:n.*531T>G
ENST00000538326.5:c.*880T>G	ENSP00000437486.1:n.*880T>G
ENST00000539145.5:c.1176T>G	ENSP00000444471.1:n.1176T>G
ENST00000541159.5:c.1797T>G	ENSP00000438711.1:n.1797T>G
ENST00000542898.5:c.*531T>G	ENSP00000444615.1:n.*531T>G
ENST00000570511.5:c.1660T>G	ENSP00000458312.1:n.1660T>G
ENST00000572244.5:c.945T>G	ENSP00000461186.1:n.945T>G
ENST00000574583.5:c.1027T>G	ENSP00000460269.1:n.1027T>G
ENST00000576315.5:c.1060T>G	ENSP00000460551.1:n.1060T>G
ENST00000621655.1:c.1792T>G	ENSP00000481436.1:n.1792T>G
NM_000243.2:c.2255T>G , LRG_190t1:c.2255T>G	NP_000234.1:p.Leu752Arg
NM_001198536.1:c.*459T>G	NP_001185465.1:n.*459T>G
XM_017023236.2:c.2252T>G	XP_016878725.1:p.Leu751Arg
NM_000243.3:c.2255T>G MANE Select	NP_000234.1:p.Leu752Arg
NM_001198536.2:c.*459T>G	NP_001185465.2:n.*459T>G