Canonical Allele Identifier: CA7859876

Gene: MEFV

Linked Data

• dbSNP Id: rs760439284
• ExAC: 16:3293385 G / A
• gnomAD v2: 16-3293385-G-A
• gnomAD v3: 16-3243385-G-A
• gnomAD v4: 16-3243385-G-A
• COSMIC: COSM5505574
• MyVariant Identifiers: chr16:g.3293385G>A (hg19) ; chr16:g.3243385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243385G>A , CM000678.2:g.3243385G>A	GRCh38
NC_000016.9:g.3293385G>A , CM000678.1:g.3293385G>A	GRCh37
NC_000016.8:g.3233386G>A	NCBI36
NG_007871.1:g.18243C>T , LRG_190:g.18243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1223C>T
ENST00000219596.6:c.2102C>T MANE Select	ENSP00000219596.1:p.Ala701Val
ENST00000219596.5:c.2102C>T	ENSP00000219596.1:p.Ala701Val
ENST00000339854.8:c.1562C>T	ENSP00000339639.4:p.Ala521Val
ENST00000536379.5:c.1469C>T	ENSP00000445079.1:p.Ala490Val
ENST00000536980.5:c.*378C>T	ENSP00000444178.1:n.*378C>T
ENST00000537682.5:c.*378C>T	ENSP00000438611.1:n.*378C>T
ENST00000538326.5:c.*727C>T	ENSP00000437486.1:n.*727C>T
ENST00000539145.5:c.1023C>T	ENSP00000444471.1:n.1023C>T
ENST00000541159.5:c.1644C>T	ENSP00000438711.1:n.1644C>T
ENST00000542898.5:c.*378C>T	ENSP00000444615.1:n.*378C>T
ENST00000570511.5:c.1507C>T	ENSP00000458312.1:n.1507C>T
ENST00000572244.5:c.792C>T	ENSP00000461186.1:n.792C>T
ENST00000574583.5:c.874C>T	ENSP00000460269.1:n.874C>T
ENST00000576315.5:c.907C>T	ENSP00000460551.1:n.907C>T
ENST00000621655.1:c.1639C>T	ENSP00000481436.1:n.1639C>T
NM_000243.2:c.2102C>T , LRG_190t1:c.2102C>T	NP_000234.1:p.Ala701Val
NM_001198536.1:c.*306C>T	NP_001185465.1:n.*306C>T
XM_017023236.2:c.2099C>T	XP_016878725.1:p.Ala700Val
NM_000243.3:c.2102C>T MANE Select	NP_000234.1:p.Ala701Val
NM_001198536.2:c.*306C>T	NP_001185465.2:n.*306C>T