Canonical Allele Identifier: CA493383736

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243396-A-G
• COSMIC: COSM3509365
• MyVariant Identifiers: chr16:g.3293396A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243396A>G , CM000678.2:g.3243396A>G	GRCh38
NC_000016.9:g.3293396A>G , CM000678.1:g.3293396A>G	GRCh37
NC_000016.8:g.3233397A>G	NCBI36
NG_007871.1:g.18232T>C , LRG_190:g.18232T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1212T>C
ENST00000219596.6:c.2091T>C MANE Select	ENSP00000219596.1:p.Asn697=
ENST00000219596.5:c.2091T>C	ENSP00000219596.1:p.Asn697=
ENST00000339854.8:c.1551T>C	ENSP00000339639.4:p.Asn517=
ENST00000536379.5:c.1458T>C	ENSP00000445079.1:p.Asn486=
ENST00000536980.5:c.*367T>C	ENSP00000444178.1:n.*367T>C
ENST00000537682.5:c.*367T>C	ENSP00000438611.1:n.*367T>C
ENST00000538326.5:c.*716T>C	ENSP00000437486.1:n.*716T>C
ENST00000539145.5:c.1012T>C	ENSP00000444471.1:n.1012T>C
ENST00000541159.5:c.1633T>C	ENSP00000438711.1:n.1633T>C
ENST00000542898.5:c.*367T>C	ENSP00000444615.1:n.*367T>C
ENST00000570511.5:c.1496T>C	ENSP00000458312.1:n.1496T>C
ENST00000572244.5:c.781T>C	ENSP00000461186.1:n.781T>C
ENST00000574583.5:c.863T>C	ENSP00000460269.1:n.863T>C
ENST00000576315.5:c.896T>C	ENSP00000460551.1:n.896T>C
ENST00000621655.1:c.1628T>C	ENSP00000481436.1:n.1628T>C
NM_000243.2:c.2091T>C , LRG_190t1:c.2091T>C	NP_000234.1:p.Asn697=
NM_001198536.1:c.*295T>C	NP_001185465.1:n.*295T>C
XM_017023236.2:c.2088T>C	XP_016878725.1:p.Asn696=
NM_000243.3:c.2091T>C MANE Select	NP_000234.1:p.Asn697=
NM_001198536.2:c.*295T>C	NP_001185465.2:n.*295T>C