Canonical Allele Identifier: CA394484672

Gene: MEFV

Linked Data

• dbSNP Id: rs1958882762
• gnomAD v3: 16-3243203-C-T
• gnomAD v4: 16-3243203-C-T
• COSMIC: COSM5886926
• MyVariant Identifiers: chr16:g.3293203C>T (hg19) ; chr16:g.3243203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243203C>T , CM000678.2:g.3243203C>T	GRCh38
NC_000016.9:g.3293203C>T , CM000678.1:g.3293203C>T	GRCh37
NC_000016.8:g.3233204C>T	NCBI36
NG_007871.1:g.18425G>A , LRG_190:g.18425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1405G>A
ENST00000219596.6:c.2284G>A MANE Select	ENSP00000219596.1:p.Asp762Asn
ENST00000219596.5:c.2284G>A	ENSP00000219596.1:p.Asp762Asn
ENST00000339854.8:c.1744G>A	ENSP00000339639.4:p.Asp582Asn
ENST00000536379.5:c.1651G>A	ENSP00000445079.1:p.Asp551Asn
ENST00000536980.5:c.*560G>A	ENSP00000444178.1:n.*560G>A
ENST00000537682.5:c.*560G>A	ENSP00000438611.1:n.*560G>A
ENST00000538326.5:c.*909G>A	ENSP00000437486.1:n.*909G>A
ENST00000539145.5:c.1205G>A	ENSP00000444471.1:n.1205G>A
ENST00000541159.5:c.1826G>A	ENSP00000438711.1:n.1826G>A
ENST00000542898.5:c.*560G>A	ENSP00000444615.1:n.*560G>A
ENST00000570511.5:c.1689G>A	ENSP00000458312.1:n.1689G>A
ENST00000572244.5:c.974G>A	ENSP00000461186.1:n.974G>A
ENST00000574583.5:c.1056G>A	ENSP00000460269.1:n.1056G>A
ENST00000576315.5:c.1089G>A	ENSP00000460551.1:n.1089G>A
ENST00000621655.1:c.1821G>A	ENSP00000481436.1:n.1821G>A
NM_000243.2:c.2284G>A , LRG_190t1:c.2284G>A	NP_000234.1:p.Asp762Asn
NM_001198536.1:c.*488G>A	NP_001185465.1:n.*488G>A
XM_017023236.2:c.2281G>A	XP_016878725.1:p.Asp761Asn
NM_000243.3:c.2284G>A MANE Select	NP_000234.1:p.Asp762Asn
NM_001198536.2:c.*488G>A	NP_001185465.2:n.*488G>A