Canonical Allele Identifier: CA493383708

Gene: MEFV

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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