Canonical Allele Identifier: CA394485944

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293380T>G (hg19) ; chr16:g.3243380T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243380T>G , CM000678.2:g.3243380T>G	GRCh38
NC_000016.9:g.3293380T>G , CM000678.1:g.3293380T>G	GRCh37
NC_000016.8:g.3233381T>G	NCBI36
NG_007871.1:g.18248A>C , LRG_190:g.18248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1228A>C
ENST00000219596.6:c.2107A>C MANE Select	ENSP00000219596.1:p.Ser703Arg
ENST00000219596.5:c.2107A>C	ENSP00000219596.1:p.Ser703Arg
ENST00000339854.8:c.1567A>C	ENSP00000339639.4:p.Ser523Arg
ENST00000536379.5:c.1474A>C	ENSP00000445079.1:p.Ser492Arg
ENST00000536980.5:c.*383A>C	ENSP00000444178.1:n.*383A>C
ENST00000537682.5:c.*383A>C	ENSP00000438611.1:n.*383A>C
ENST00000538326.5:c.*732A>C	ENSP00000437486.1:n.*732A>C
ENST00000539145.5:c.1028A>C	ENSP00000444471.1:n.1028A>C
ENST00000541159.5:c.1649A>C	ENSP00000438711.1:n.1649A>C
ENST00000542898.5:c.*383A>C	ENSP00000444615.1:n.*383A>C
ENST00000570511.5:c.1512A>C	ENSP00000458312.1:n.1512A>C
ENST00000572244.5:c.797A>C	ENSP00000461186.1:n.797A>C
ENST00000574583.5:c.879A>C	ENSP00000460269.1:n.879A>C
ENST00000576315.5:c.912A>C	ENSP00000460551.1:n.912A>C
ENST00000621655.1:c.1644A>C	ENSP00000481436.1:n.1644A>C
NM_000243.2:c.2107A>C , LRG_190t1:c.2107A>C	NP_000234.1:p.Ser703Arg
NM_001198536.1:c.*311A>C	NP_001185465.1:n.*311A>C
XM_017023236.2:c.2104A>C	XP_016878725.1:p.Ser702Arg
NM_000243.3:c.2107A>C MANE Select	NP_000234.1:p.Ser703Arg
NM_001198536.2:c.*311A>C	NP_001185465.2:n.*311A>C