Canonical Allele Identifier: CA493383468

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293516C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243516C>T , CM000678.2:g.3243516C>T	GRCh38
NC_000016.9:g.3293516C>T , CM000678.1:g.3293516C>T	GRCh37
NC_000016.8:g.3233517C>T	NCBI36
NG_007871.1:g.18112G>A , LRG_190:g.18112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1092G>A
ENST00000219596.6:c.1971G>A MANE Select	ENSP00000219596.1:p.Val657=
ENST00000219596.5:c.1971G>A	ENSP00000219596.1:p.Val657=
ENST00000339854.8:c.1431G>A	ENSP00000339639.4:p.Val477=
ENST00000536379.5:c.1338G>A	ENSP00000445079.1:p.Val446=
ENST00000536980.5:c.*247G>A	ENSP00000444178.1:n.*247G>A
ENST00000537682.5:c.*247G>A	ENSP00000438611.1:n.*247G>A
ENST00000538326.5:c.*596G>A	ENSP00000437486.1:n.*596G>A
ENST00000539145.5:c.892G>A	ENSP00000444471.1:n.892G>A
ENST00000541159.5:c.1513G>A	ENSP00000438711.1:n.1513G>A
ENST00000542898.5:c.*247G>A	ENSP00000444615.1:n.*247G>A
ENST00000570511.5:c.1376G>A	ENSP00000458312.1:n.1376G>A
ENST00000572244.5:c.661G>A	ENSP00000461186.1:n.661G>A
ENST00000574583.5:c.743G>A	ENSP00000460269.1:n.743G>A
ENST00000576315.5:c.776G>A	ENSP00000460551.1:n.776G>A
ENST00000621655.1:c.1508G>A	ENSP00000481436.1:n.1508G>A
NM_000243.2:c.1971G>A , LRG_190t1:c.1971G>A	NP_000234.1:p.Val657=
NM_001198536.1:c.*175G>A	NP_001185465.1:n.*175G>A
XM_017023236.2:c.1968G>A	XP_016878725.1:p.Val656=
NM_000243.3:c.1971G>A MANE Select	NP_000234.1:p.Val657=
NM_001198536.2:c.*175G>A	NP_001185465.2:n.*175G>A