Canonical Allele Identifier: CA394484195

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243144-G-C
• COSMIC: COSM4701612
• MyVariant Identifiers: chr16:g.3293144G>C (hg19) ; chr16:g.3243144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243144G>C , CM000678.2:g.3243144G>C	GRCh38
NC_000016.9:g.3293144G>C , CM000678.1:g.3293144G>C	GRCh37
NC_000016.8:g.3233145G>C	NCBI36
NG_007871.1:g.18484C>G , LRG_190:g.18484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1464C>G
ENST00000219596.6:c.2343C>G MANE Select	ENSP00000219596.1:p.Asp781Glu
ENST00000219596.5:c.2343C>G	ENSP00000219596.1:p.Asp781Glu
ENST00000339854.8:c.1803C>G	ENSP00000339639.4:p.Asp601Glu
ENST00000536379.5:c.1710C>G	ENSP00000445079.1:p.Asp570Glu
ENST00000536980.5:c.*619C>G	ENSP00000444178.1:n.*619C>G
ENST00000537682.5:c.*619C>G	ENSP00000438611.1:n.*619C>G
ENST00000538326.5:c.*968C>G	ENSP00000437486.1:n.*968C>G
ENST00000539145.5:c.1264C>G	ENSP00000444471.1:n.1264C>G
ENST00000541159.5:c.1885C>G	ENSP00000438711.1:n.1885C>G
ENST00000542898.5:c.*619C>G	ENSP00000444615.1:n.*619C>G
ENST00000570511.5:c.1748C>G	ENSP00000458312.1:n.1748C>G
ENST00000572244.5:c.1033C>G	ENSP00000461186.1:n.1033C>G
ENST00000574583.5:c.1115C>G	ENSP00000460269.1:n.1115C>G
ENST00000576315.5:c.1148C>G	ENSP00000460551.1:n.1148C>G
ENST00000621655.1:c.1880C>G	ENSP00000481436.1:n.1880C>G
NM_000243.2:c.2343C>G , LRG_190t1:c.2343C>G	NP_000234.1:p.Asp781Glu
NM_001198536.1:c.*547C>G	NP_001185465.1:n.*547C>G
XM_017023236.2:c.2340C>G	XP_016878725.1:p.Asp780Glu
NM_000243.3:c.2343C>G MANE Select	NP_000234.1:p.Asp781Glu
NM_001198536.2:c.*547C>G	NP_001185465.2:n.*547C>G