Canonical Allele Identifier: CA493383754

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293435T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243435T>A , CM000678.2:g.3243435T>A	GRCh38
NC_000016.9:g.3293435T>A , CM000678.1:g.3293435T>A	GRCh37
NC_000016.8:g.3233436T>A	NCBI36
NG_007871.1:g.18193A>T , LRG_190:g.18193A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1173A>T
ENST00000219596.6:c.2052A>T MANE Select	ENSP00000219596.1:p.Pro684=
ENST00000219596.5:c.2052A>T	ENSP00000219596.1:p.Pro684=
ENST00000339854.8:c.1512A>T	ENSP00000339639.4:p.Pro504=
ENST00000536379.5:c.1419A>T	ENSP00000445079.1:p.Pro473=
ENST00000536980.5:c.*328A>T	ENSP00000444178.1:n.*328A>T
ENST00000537682.5:c.*328A>T	ENSP00000438611.1:n.*328A>T
ENST00000538326.5:c.*677A>T	ENSP00000437486.1:n.*677A>T
ENST00000539145.5:c.973A>T	ENSP00000444471.1:n.973A>T
ENST00000541159.5:c.1594A>T	ENSP00000438711.1:n.1594A>T
ENST00000542898.5:c.*328A>T	ENSP00000444615.1:n.*328A>T
ENST00000570511.5:c.1457A>T	ENSP00000458312.1:n.1457A>T
ENST00000572244.5:c.742A>T	ENSP00000461186.1:n.742A>T
ENST00000574583.5:c.824A>T	ENSP00000460269.1:n.824A>T
ENST00000576315.5:c.857A>T	ENSP00000460551.1:n.857A>T
ENST00000621655.1:c.1589A>T	ENSP00000481436.1:n.1589A>T
NM_000243.2:c.2052A>T , LRG_190t1:c.2052A>T	NP_000234.1:p.Pro684=
NM_001198536.1:c.*256A>T	NP_001185465.1:n.*256A>T
XM_017023236.2:c.2049A>T	XP_016878725.1:p.Pro683=
NM_000243.3:c.2052A>T MANE Select	NP_000234.1:p.Pro684=
NM_001198536.2:c.*256A>T	NP_001185465.2:n.*256A>T