Canonical Allele Identifier: CA394486209

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243411-T-C
• MyVariant Identifiers: chr16:g.3293411T>C (hg19) ; chr16:g.3243411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243411T>C , CM000678.2:g.3243411T>C	GRCh38
NC_000016.9:g.3293411T>C , CM000678.1:g.3293411T>C	GRCh37
NC_000016.8:g.3233412T>C	NCBI36
NG_007871.1:g.18217A>G , LRG_190:g.18217A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1197A>G
ENST00000219596.6:c.2076A>G MANE Select	ENSP00000219596.1:p.Ile692Met
ENST00000219596.5:c.2076A>G	ENSP00000219596.1:p.Ile692Met
ENST00000339854.8:c.1536A>G	ENSP00000339639.4:p.Ile512Met
ENST00000536379.5:c.1443A>G	ENSP00000445079.1:p.Ile481Met
ENST00000536980.5:c.*352A>G	ENSP00000444178.1:n.*352A>G
ENST00000537682.5:c.*352A>G	ENSP00000438611.1:n.*352A>G
ENST00000538326.5:c.*701A>G	ENSP00000437486.1:n.*701A>G
ENST00000539145.5:c.997A>G	ENSP00000444471.1:n.997A>G
ENST00000541159.5:c.1618A>G	ENSP00000438711.1:n.1618A>G
ENST00000542898.5:c.*352A>G	ENSP00000444615.1:n.*352A>G
ENST00000570511.5:c.1481A>G	ENSP00000458312.1:n.1481A>G
ENST00000572244.5:c.766A>G	ENSP00000461186.1:n.766A>G
ENST00000574583.5:c.848A>G	ENSP00000460269.1:n.848A>G
ENST00000576315.5:c.881A>G	ENSP00000460551.1:n.881A>G
ENST00000621655.1:c.1613A>G	ENSP00000481436.1:n.1613A>G
NM_000243.2:c.2076A>G , LRG_190t1:c.2076A>G	NP_000234.1:p.Ile692Met
NM_001198536.1:c.*280A>G	NP_001185465.1:n.*280A>G
XM_017023236.2:c.2073A>G	XP_016878725.1:p.Ile691Met
NM_000243.3:c.2076A>G MANE Select	NP_000234.1:p.Ile692Met
NM_001198536.2:c.*280A>G	NP_001185465.2:n.*280A>G