Canonical Allele Identifier: CA394487121

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293500T>A (hg19) ; chr16:g.3243500T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243500T>A , CM000678.2:g.3243500T>A	GRCh38
NC_000016.9:g.3293500T>A , CM000678.1:g.3293500T>A	GRCh37
NC_000016.8:g.3233501T>A	NCBI36
NG_007871.1:g.18128A>T , LRG_190:g.18128A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1108A>T
ENST00000219596.6:c.1987A>T MANE Select	ENSP00000219596.1:p.Thr663Ser
ENST00000219596.5:c.1987A>T	ENSP00000219596.1:p.Thr663Ser
ENST00000339854.8:c.1447A>T	ENSP00000339639.4:p.Thr483Ser
ENST00000536379.5:c.1354A>T	ENSP00000445079.1:p.Thr452Ser
ENST00000536980.5:c.*263A>T	ENSP00000444178.1:n.*263A>T
ENST00000537682.5:c.*263A>T	ENSP00000438611.1:n.*263A>T
ENST00000538326.5:c.*612A>T	ENSP00000437486.1:n.*612A>T
ENST00000539145.5:c.908A>T	ENSP00000444471.1:n.908A>T
ENST00000541159.5:c.1529A>T	ENSP00000438711.1:n.1529A>T
ENST00000542898.5:c.*263A>T	ENSP00000444615.1:n.*263A>T
ENST00000570511.5:c.1392A>T	ENSP00000458312.1:n.1392A>T
ENST00000572244.5:c.677A>T	ENSP00000461186.1:n.677A>T
ENST00000574583.5:c.759A>T	ENSP00000460269.1:n.759A>T
ENST00000576315.5:c.792A>T	ENSP00000460551.1:n.792A>T
ENST00000621655.1:c.1524A>T	ENSP00000481436.1:n.1524A>T
NM_000243.2:c.1987A>T , LRG_190t1:c.1987A>T	NP_000234.1:p.Thr663Ser
NM_001198536.1:c.*191A>T	NP_001185465.1:n.*191A>T
XM_017023236.2:c.1984A>T	XP_016878725.1:p.Thr662Ser
NM_000243.3:c.1987A>T MANE Select	NP_000234.1:p.Thr663Ser
NM_001198536.2:c.*191A>T	NP_001185465.2:n.*191A>T