Canonical Allele Identifier: CA394486383

Gene: MEFV

Linked Data

• dbSNP Id: rs1357275323
• gnomAD v3: 16-3243430-T-G
• gnomAD v4: 16-3243430-T-G
• MyVariant Identifiers: chr16:g.3293430T>G (hg19) ; chr16:g.3243430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243430T>G , CM000678.2:g.3243430T>G	GRCh38
NC_000016.9:g.3293430T>G , CM000678.1:g.3293430T>G	GRCh37
NC_000016.8:g.3233431T>G	NCBI36
NG_007871.1:g.18198A>C , LRG_190:g.18198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1178A>C
ENST00000219596.6:c.2057A>C MANE Select	ENSP00000219596.1:p.Asn686Thr
ENST00000219596.5:c.2057A>C	ENSP00000219596.1:p.Asn686Thr
ENST00000339854.8:c.1517A>C	ENSP00000339639.4:p.Asn506Thr
ENST00000536379.5:c.1424A>C	ENSP00000445079.1:p.Asn475Thr
ENST00000536980.5:c.*333A>C	ENSP00000444178.1:n.*333A>C
ENST00000537682.5:c.*333A>C	ENSP00000438611.1:n.*333A>C
ENST00000538326.5:c.*682A>C	ENSP00000437486.1:n.*682A>C
ENST00000539145.5:c.978A>C	ENSP00000444471.1:n.978A>C
ENST00000541159.5:c.1599A>C	ENSP00000438711.1:n.1599A>C
ENST00000542898.5:c.*333A>C	ENSP00000444615.1:n.*333A>C
ENST00000570511.5:c.1462A>C	ENSP00000458312.1:n.1462A>C
ENST00000572244.5:c.747A>C	ENSP00000461186.1:n.747A>C
ENST00000574583.5:c.829A>C	ENSP00000460269.1:n.829A>C
ENST00000576315.5:c.862A>C	ENSP00000460551.1:n.862A>C
ENST00000621655.1:c.1594A>C	ENSP00000481436.1:n.1594A>C
NM_000243.2:c.2057A>C , LRG_190t1:c.2057A>C	NP_000234.1:p.Asn686Thr
NM_001198536.1:c.*261A>C	NP_001185465.1:n.*261A>C
XM_017023236.2:c.2054A>C	XP_016878725.1:p.Asn685Thr
NM_000243.3:c.2057A>C MANE Select	NP_000234.1:p.Asn686Thr
NM_001198536.2:c.*261A>C	NP_001185465.2:n.*261A>C