Canonical Allele Identifier: CA394488801

Gene: MEFV

Linked Data

• dbSNP Id: rs1312420603
• gnomAD v2: 16-3293864-A-G
• gnomAD v3: 16-3243864-A-G
• gnomAD v4: 16-3243864-A-G
• COSMIC: COSM1478851 ; COSM1478852
• MyVariant Identifiers: chr16:g.3293864A>G (hg19) ; chr16:g.3243864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243864A>G , CM000678.2:g.3243864A>G	GRCh38
NC_000016.9:g.3293864A>G , CM000678.1:g.3293864A>G	GRCh37
NC_000016.8:g.3233865A>G	NCBI36
NG_007871.1:g.17764T>C , LRG_190:g.17764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.909T>C
ENST00000219596.6:c.1788T>C MANE Select	ENSP00000219596.1:p.His596=
ENST00000219596.5:c.1788T>C	ENSP00000219596.1:p.His596=
ENST00000339854.8:c.1248T>C	ENSP00000339639.4:p.His416=
ENST00000536379.5:c.1155T>C	ENSP00000445079.1:p.His385=
ENST00000536980.5:c.*64T>C	ENSP00000444178.1:n.*64T>C
ENST00000537682.5:c.*64T>C	ENSP00000438611.1:n.*64T>C
ENST00000538326.5:c.*413T>C	ENSP00000437486.1:n.*413T>C
ENST00000539145.5:c.709T>C	ENSP00000444471.1:n.709T>C
ENST00000541159.5:c.1330T>C	ENSP00000438711.1:p.Cys444Arg
ENST00000542898.5:c.*64T>C	ENSP00000444615.1:n.*64T>C
ENST00000570511.5:c.1193T>C	ENSP00000458312.1:n.1193T>C
ENST00000572244.5:c.478T>C	ENSP00000461186.1:n.478T>C
ENST00000574583.5:c.560T>C	ENSP00000460269.1:n.560T>C
ENST00000576315.5:c.593T>C	ENSP00000460551.1:n.593T>C
ENST00000621655.1:c.1325T>C	ENSP00000481436.1:n.1325T>C
NM_000243.2:c.1788T>C , LRG_190t1:c.1788T>C	NP_000234.1:p.His596=
NM_001198536.1:c.1330T>C	NP_001185465.1:p.Cys444Arg
XM_017023236.2:c.1785T>C	XP_016878725.1:p.His595=
XR_001751903.1:n.2095T>C
NM_000243.3:c.1788T>C MANE Select	NP_000234.1:p.His596=
NM_001198536.2:c.1330T>C	NP_001185465.2:p.Cys444Arg