Canonical Allele Identifier: CA7859864

Gene: MEFV

Linked Data

• dbSNP Id: rs752420742
• ExAC: 16:3293326 A / G
• gnomAD v2: 16-3293326-A-G
• gnomAD v4: 16-3243326-A-G
• MyVariant Identifiers: chr16:g.3293326A>G (hg19) ; chr16:g.3243326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243326A>G , CM000678.2:g.3243326A>G	GRCh38
NC_000016.9:g.3293326A>G , CM000678.1:g.3293326A>G	GRCh37
NC_000016.8:g.3233327A>G	NCBI36
NG_007871.1:g.18302T>C , LRG_190:g.18302T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1282T>C
ENST00000219596.6:c.2161T>C MANE Select	ENSP00000219596.1:p.Phe721Leu
ENST00000219596.5:c.2161T>C	ENSP00000219596.1:p.Phe721Leu
ENST00000339854.8:c.1621T>C	ENSP00000339639.4:p.Phe541Leu
ENST00000536379.5:c.1528T>C	ENSP00000445079.1:p.Phe510Leu
ENST00000536980.5:c.*437T>C	ENSP00000444178.1:n.*437T>C
ENST00000537682.5:c.*437T>C	ENSP00000438611.1:n.*437T>C
ENST00000538326.5:c.*786T>C	ENSP00000437486.1:n.*786T>C
ENST00000539145.5:c.1082T>C	ENSP00000444471.1:n.1082T>C
ENST00000541159.5:c.1703T>C	ENSP00000438711.1:n.1703T>C
ENST00000542898.5:c.*437T>C	ENSP00000444615.1:n.*437T>C
ENST00000570511.5:c.1566T>C	ENSP00000458312.1:n.1566T>C
ENST00000572244.5:c.851T>C	ENSP00000461186.1:n.851T>C
ENST00000574583.5:c.933T>C	ENSP00000460269.1:n.933T>C
ENST00000576315.5:c.966T>C	ENSP00000460551.1:n.966T>C
ENST00000621655.1:c.1698T>C	ENSP00000481436.1:n.1698T>C
NM_000243.2:c.2161T>C , LRG_190t1:c.2161T>C	NP_000234.1:p.Phe721Leu
NM_001198536.1:c.*365T>C	NP_001185465.1:n.*365T>C
XM_017023236.2:c.2158T>C	XP_016878725.1:p.Phe720Leu
NM_000243.3:c.2161T>C MANE Select	NP_000234.1:p.Phe721Leu
NM_001198536.2:c.*365T>C	NP_001185465.2:n.*365T>C