Canonical Allele Identifier: CA493383707

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293357T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243357T>A , CM000678.2:g.3243357T>A	GRCh38
NC_000016.9:g.3293357T>A , CM000678.1:g.3293357T>A	GRCh37
NC_000016.8:g.3233358T>A	NCBI36
NG_007871.1:g.18271A>T , LRG_190:g.18271A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1251A>T
ENST00000219596.6:c.2130A>T MANE Select	ENSP00000219596.1:p.Leu710=
ENST00000219596.5:c.2130A>T	ENSP00000219596.1:p.Leu710=
ENST00000339854.8:c.1590A>T	ENSP00000339639.4:p.Leu530=
ENST00000536379.5:c.1497A>T	ENSP00000445079.1:p.Leu499=
ENST00000536980.5:c.*406A>T	ENSP00000444178.1:n.*406A>T
ENST00000537682.5:c.*406A>T	ENSP00000438611.1:n.*406A>T
ENST00000538326.5:c.*755A>T	ENSP00000437486.1:n.*755A>T
ENST00000539145.5:c.1051A>T	ENSP00000444471.1:n.1051A>T
ENST00000541159.5:c.1672A>T	ENSP00000438711.1:n.1672A>T
ENST00000542898.5:c.*406A>T	ENSP00000444615.1:n.*406A>T
ENST00000570511.5:c.1535A>T	ENSP00000458312.1:n.1535A>T
ENST00000572244.5:c.820A>T	ENSP00000461186.1:n.820A>T
ENST00000574583.5:c.902A>T	ENSP00000460269.1:n.902A>T
ENST00000576315.5:c.935A>T	ENSP00000460551.1:n.935A>T
ENST00000621655.1:c.1667A>T	ENSP00000481436.1:n.1667A>T
NM_000243.2:c.2130A>T , LRG_190t1:c.2130A>T	NP_000234.1:p.Leu710=
NM_001198536.1:c.*334A>T	NP_001185465.1:n.*334A>T
XM_017023236.2:c.2127A>T	XP_016878725.1:p.Leu709=
NM_000243.3:c.2130A>T MANE Select	NP_000234.1:p.Leu710=
NM_001198536.2:c.*334A>T	NP_001185465.2:n.*334A>T