Canonical Allele Identifier: CA7859846

Gene: MEFV

Linked Data

• dbSNP Id: rs749838979
• ExAC: 16:3293239 C / T
• gnomAD v2: 16-3293239-C-T
• gnomAD v4: 16-3243239-C-T
• MyVariant Identifiers: chr16:g.3293239C>T (hg19) ; chr16:g.3243239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243239C>T , CM000678.2:g.3243239C>T	GRCh38
NC_000016.9:g.3293239C>T , CM000678.1:g.3293239C>T	GRCh37
NC_000016.8:g.3233240C>T	NCBI36
NG_007871.1:g.18389G>A , LRG_190:g.18389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1369G>A
ENST00000219596.6:c.2248G>A MANE Select	ENSP00000219596.1:p.Gly750Arg
ENST00000219596.5:c.2248G>A	ENSP00000219596.1:p.Gly750Arg
ENST00000339854.8:c.1708G>A	ENSP00000339639.4:p.Gly570Arg
ENST00000536379.5:c.1615G>A	ENSP00000445079.1:p.Gly539Arg
ENST00000536980.5:c.*524G>A	ENSP00000444178.1:n.*524G>A
ENST00000537682.5:c.*524G>A	ENSP00000438611.1:n.*524G>A
ENST00000538326.5:c.*873G>A	ENSP00000437486.1:n.*873G>A
ENST00000539145.5:c.1169G>A	ENSP00000444471.1:n.1169G>A
ENST00000541159.5:c.1790G>A	ENSP00000438711.1:n.1790G>A
ENST00000542898.5:c.*524G>A	ENSP00000444615.1:n.*524G>A
ENST00000570511.5:c.1653G>A	ENSP00000458312.1:n.1653G>A
ENST00000572244.5:c.938G>A	ENSP00000461186.1:n.938G>A
ENST00000574583.5:c.1020G>A	ENSP00000460269.1:n.1020G>A
ENST00000576315.5:c.1053G>A	ENSP00000460551.1:n.1053G>A
ENST00000621655.1:c.1785G>A	ENSP00000481436.1:n.1785G>A
NM_000243.2:c.2248G>A , LRG_190t1:c.2248G>A	NP_000234.1:p.Gly750Arg
NM_001198536.1:c.*452G>A	NP_001185465.1:n.*452G>A
XM_017023236.2:c.2245G>A	XP_016878725.1:p.Gly749Arg
NM_000243.3:c.2248G>A MANE Select	NP_000234.1:p.Gly750Arg
NM_001198536.2:c.*452G>A	NP_001185465.2:n.*452G>A