Canonical Allele Identifier: CA394485925

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243378-G-T
• MyVariant Identifiers: chr16:g.3293378G>T (hg19) ; chr16:g.3243378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243378G>T , CM000678.2:g.3243378G>T	GRCh38
NC_000016.9:g.3293378G>T , CM000678.1:g.3293378G>T	GRCh37
NC_000016.8:g.3233379G>T	NCBI36
NG_007871.1:g.18250C>A , LRG_190:g.18250C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1230C>A
ENST00000219596.6:c.2109C>A MANE Select	ENSP00000219596.1:p.Ser703Arg
ENST00000219596.5:c.2109C>A	ENSP00000219596.1:p.Ser703Arg
ENST00000339854.8:c.1569C>A	ENSP00000339639.4:p.Ser523Arg
ENST00000536379.5:c.1476C>A	ENSP00000445079.1:p.Ser492Arg
ENST00000536980.5:c.*385C>A	ENSP00000444178.1:n.*385C>A
ENST00000537682.5:c.*385C>A	ENSP00000438611.1:n.*385C>A
ENST00000538326.5:c.*734C>A	ENSP00000437486.1:n.*734C>A
ENST00000539145.5:c.1030C>A	ENSP00000444471.1:n.1030C>A
ENST00000541159.5:c.1651C>A	ENSP00000438711.1:n.1651C>A
ENST00000542898.5:c.*385C>A	ENSP00000444615.1:n.*385C>A
ENST00000570511.5:c.1514C>A	ENSP00000458312.1:n.1514C>A
ENST00000572244.5:c.799C>A	ENSP00000461186.1:n.799C>A
ENST00000574583.5:c.881C>A	ENSP00000460269.1:n.881C>A
ENST00000576315.5:c.914C>A	ENSP00000460551.1:n.914C>A
ENST00000621655.1:c.1646C>A	ENSP00000481436.1:n.1646C>A
NM_000243.2:c.2109C>A , LRG_190t1:c.2109C>A	NP_000234.1:p.Ser703Arg
NM_001198536.1:c.*313C>A	NP_001185465.1:n.*313C>A
XM_017023236.2:c.2106C>A	XP_016878725.1:p.Ser702Arg
NM_000243.3:c.2109C>A MANE Select	NP_000234.1:p.Ser703Arg
NM_001198536.2:c.*313C>A	NP_001185465.2:n.*313C>A