Canonical Allele Identifier: CA7859845

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1097551
• ClinVar RCV Id: RCV001419161
• dbSNP Id: rs776137465
• ExAC: 16:3293222 G / A
• gnomAD v2: 16-3293222-G-A
• gnomAD v4: 16-3243222-G-A
• MyVariant Identifiers: chr16:g.3293222G>A (hg19) ; chr16:g.3243222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243222G>A , CM000678.2:g.3243222G>A	GRCh38
NC_000016.9:g.3293222G>A , CM000678.1:g.3293222G>A	GRCh37
NC_000016.8:g.3233223G>A	NCBI36
NG_007871.1:g.18406C>T , LRG_190:g.18406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1386C>T
ENST00000219596.6:c.2265C>T MANE Select	ENSP00000219596.1:p.Ile755=
ENST00000219596.5:c.2265C>T	ENSP00000219596.1:p.Ile755=
ENST00000339854.8:c.1725C>T	ENSP00000339639.4:p.Ile575=
ENST00000536379.5:c.1632C>T	ENSP00000445079.1:p.Ile544=
ENST00000536980.5:c.*541C>T	ENSP00000444178.1:n.*541C>T
ENST00000537682.5:c.*541C>T	ENSP00000438611.1:n.*541C>T
ENST00000538326.5:c.*890C>T	ENSP00000437486.1:n.*890C>T
ENST00000539145.5:c.1186C>T	ENSP00000444471.1:n.1186C>T
ENST00000541159.5:c.1807C>T	ENSP00000438711.1:n.1807C>T
ENST00000542898.5:c.*541C>T	ENSP00000444615.1:n.*541C>T
ENST00000570511.5:c.1670C>T	ENSP00000458312.1:n.1670C>T
ENST00000572244.5:c.955C>T	ENSP00000461186.1:n.955C>T
ENST00000574583.5:c.1037C>T	ENSP00000460269.1:n.1037C>T
ENST00000576315.5:c.1070C>T	ENSP00000460551.1:n.1070C>T
ENST00000621655.1:c.1802C>T	ENSP00000481436.1:n.1802C>T
NM_000243.2:c.2265C>T , LRG_190t1:c.2265C>T	NP_000234.1:p.Ile755=
NM_001198536.1:c.*469C>T	NP_001185465.1:n.*469C>T
XM_017023236.2:c.2262C>T	XP_016878725.1:p.Ile754=
NM_000243.3:c.2265C>T MANE Select	NP_000234.1:p.Ile755=
NM_001198536.2:c.*469C>T	NP_001185465.2:n.*469C>T