Canonical Allele Identifier: CA493383482

Gene: MEFV

Linked Data

• dbSNP Id: rs1596350149
• MyVariant Identifiers: chr16:g.3293537A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243537A>G , CM000678.2:g.3243537A>G	GRCh38
NC_000016.9:g.3293537A>G , CM000678.1:g.3293537A>G	GRCh37
NC_000016.8:g.3233538A>G	NCBI36
NG_007871.1:g.18091T>C , LRG_190:g.18091T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1071T>C
ENST00000219596.6:c.1950T>C MANE Select	ENSP00000219596.1:p.Ser650=
ENST00000219596.5:c.1950T>C	ENSP00000219596.1:p.Ser650=
ENST00000339854.8:c.1410T>C	ENSP00000339639.4:p.Ser470=
ENST00000536379.5:c.1317T>C	ENSP00000445079.1:p.Ser439=
ENST00000536980.5:c.*226T>C	ENSP00000444178.1:n.*226T>C
ENST00000537682.5:c.*226T>C	ENSP00000438611.1:n.*226T>C
ENST00000538326.5:c.*575T>C	ENSP00000437486.1:n.*575T>C
ENST00000539145.5:c.871T>C	ENSP00000444471.1:n.871T>C
ENST00000541159.5:c.1492T>C	ENSP00000438711.1:n.1492T>C
ENST00000542898.5:c.*226T>C	ENSP00000444615.1:n.*226T>C
ENST00000570511.5:c.1355T>C	ENSP00000458312.1:n.1355T>C
ENST00000572244.5:c.640T>C	ENSP00000461186.1:n.640T>C
ENST00000574583.5:c.722T>C	ENSP00000460269.1:n.722T>C
ENST00000576315.5:c.755T>C	ENSP00000460551.1:n.755T>C
ENST00000621655.1:c.1487T>C	ENSP00000481436.1:n.1487T>C
NM_000243.2:c.1950T>C , LRG_190t1:c.1950T>C	NP_000234.1:p.Ser650=
NM_001198536.1:c.*154T>C	NP_001185465.1:n.*154T>C
XM_017023236.2:c.1947T>C	XP_016878725.1:p.Ser649=
NM_000243.3:c.1950T>C MANE Select	NP_000234.1:p.Ser650=
NM_001198536.2:c.*154T>C	NP_001185465.2:n.*154T>C