Canonical Allele Identifier: CA394486337

Gene: MEFV

Linked Data

• COSMIC: COSM5770682
• MyVariant Identifiers: chr16:g.3293425A>G (hg19) ; chr16:g.3243425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243425A>G , CM000678.2:g.3243425A>G	GRCh38
NC_000016.9:g.3293425A>G , CM000678.1:g.3293425A>G	GRCh37
NC_000016.8:g.3233426A>G	NCBI36
NG_007871.1:g.18203T>C , LRG_190:g.18203T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1183T>C
ENST00000219596.6:c.2062T>C MANE Select	ENSP00000219596.1:p.Tyr688His
ENST00000219596.5:c.2062T>C	ENSP00000219596.1:p.Tyr688His
ENST00000339854.8:c.1522T>C	ENSP00000339639.4:p.Tyr508His
ENST00000536379.5:c.1429T>C	ENSP00000445079.1:p.Tyr477His
ENST00000536980.5:c.*338T>C	ENSP00000444178.1:n.*338T>C
ENST00000537682.5:c.*338T>C	ENSP00000438611.1:n.*338T>C
ENST00000538326.5:c.*687T>C	ENSP00000437486.1:n.*687T>C
ENST00000539145.5:c.983T>C	ENSP00000444471.1:n.983T>C
ENST00000541159.5:c.1604T>C	ENSP00000438711.1:n.1604T>C
ENST00000542898.5:c.*338T>C	ENSP00000444615.1:n.*338T>C
ENST00000570511.5:c.1467T>C	ENSP00000458312.1:n.1467T>C
ENST00000572244.5:c.752T>C	ENSP00000461186.1:n.752T>C
ENST00000574583.5:c.834T>C	ENSP00000460269.1:n.834T>C
ENST00000576315.5:c.867T>C	ENSP00000460551.1:n.867T>C
ENST00000621655.1:c.1599T>C	ENSP00000481436.1:n.1599T>C
NM_000243.2:c.2062T>C , LRG_190t1:c.2062T>C	NP_000234.1:p.Tyr688His
NM_001198536.1:c.*266T>C	NP_001185465.1:n.*266T>C
XM_017023236.2:c.2059T>C	XP_016878725.1:p.Tyr687His
NM_000243.3:c.2062T>C MANE Select	NP_000234.1:p.Tyr688His
NM_001198536.2:c.*266T>C	NP_001185465.2:n.*266T>C