Canonical Allele Identifier: CA394485040

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1320936
• ClinVar RCV Id: RCV001776915
• dbSNP Id: rs1407457811
• gnomAD v2: 16-3293251-A-G
• gnomAD v4: 16-3243251-A-G
• MyVariant Identifiers: chr16:g.3293251A>G (hg19) ; chr16:g.3243251A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243251A>G , CM000678.2:g.3243251A>G	GRCh38
NC_000016.9:g.3293251A>G , CM000678.1:g.3293251A>G	GRCh37
NC_000016.8:g.3233252A>G	NCBI36
NG_007871.1:g.18377T>C , LRG_190:g.18377T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1357T>C
ENST00000219596.6:c.2236T>C MANE Select	ENSP00000219596.1:p.Cys746Arg
ENST00000219596.5:c.2236T>C	ENSP00000219596.1:p.Cys746Arg
ENST00000339854.8:c.1696T>C	ENSP00000339639.4:p.Cys566Arg
ENST00000536379.5:c.1603T>C	ENSP00000445079.1:p.Cys535Arg
ENST00000536980.5:c.*512T>C	ENSP00000444178.1:n.*512T>C
ENST00000537682.5:c.*512T>C	ENSP00000438611.1:n.*512T>C
ENST00000538326.5:c.*861T>C	ENSP00000437486.1:n.*861T>C
ENST00000539145.5:c.1157T>C	ENSP00000444471.1:n.1157T>C
ENST00000541159.5:c.1778T>C	ENSP00000438711.1:n.1778T>C
ENST00000542898.5:c.*512T>C	ENSP00000444615.1:n.*512T>C
ENST00000570511.5:c.1641T>C	ENSP00000458312.1:n.1641T>C
ENST00000572244.5:c.926T>C	ENSP00000461186.1:n.926T>C
ENST00000574583.5:c.1008T>C	ENSP00000460269.1:n.1008T>C
ENST00000576315.5:c.1041T>C	ENSP00000460551.1:n.1041T>C
ENST00000621655.1:c.1773T>C	ENSP00000481436.1:n.1773T>C
NM_000243.2:c.2236T>C , LRG_190t1:c.2236T>C	NP_000234.1:p.Cys746Arg
NM_001198536.1:c.*440T>C	NP_001185465.1:n.*440T>C
XM_017023236.2:c.2233T>C	XP_016878725.1:p.Cys745Arg
NM_000243.3:c.2236T>C MANE Select	NP_000234.1:p.Cys746Arg
NM_001198536.2:c.*440T>C	NP_001185465.2:n.*440T>C