Canonical Allele Identifier: CA493257586

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243165-T-C
• MyVariant Identifiers: chr16:g.3293165T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243165T>C , CM000678.2:g.3243165T>C	GRCh38
NC_000016.9:g.3293165T>C , CM000678.1:g.3293165T>C	GRCh37
NC_000016.8:g.3233166T>C	NCBI36
NG_007871.1:g.18463A>G , LRG_190:g.18463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1443A>G
ENST00000219596.6:c.2322A>G MANE Select	ENSP00000219596.1:p.Pro774=
ENST00000219596.5:c.2322A>G	ENSP00000219596.1:p.Pro774=
ENST00000339854.8:c.1782A>G	ENSP00000339639.4:p.Pro594=
ENST00000536379.5:c.1689A>G	ENSP00000445079.1:p.Pro563=
ENST00000536980.5:c.*598A>G	ENSP00000444178.1:n.*598A>G
ENST00000537682.5:c.*598A>G	ENSP00000438611.1:n.*598A>G
ENST00000538326.5:c.*947A>G	ENSP00000437486.1:n.*947A>G
ENST00000539145.5:c.1243A>G	ENSP00000444471.1:n.1243A>G
ENST00000541159.5:c.1864A>G	ENSP00000438711.1:n.1864A>G
ENST00000542898.5:c.*598A>G	ENSP00000444615.1:n.*598A>G
ENST00000570511.5:c.1727A>G	ENSP00000458312.1:n.1727A>G
ENST00000572244.5:c.1012A>G	ENSP00000461186.1:n.1012A>G
ENST00000574583.5:c.1094A>G	ENSP00000460269.1:n.1094A>G
ENST00000576315.5:c.1127A>G	ENSP00000460551.1:n.1127A>G
ENST00000621655.1:c.1859A>G	ENSP00000481436.1:n.1859A>G
NM_000243.2:c.2322A>G , LRG_190t1:c.2322A>G	NP_000234.1:p.Pro774=
NM_001198536.1:c.*526A>G	NP_001185465.1:n.*526A>G
XM_017023236.2:c.2319A>G	XP_016878725.1:p.Pro773=
NM_000243.3:c.2322A>G MANE Select	NP_000234.1:p.Pro774=
NM_001198536.2:c.*526A>G	NP_001185465.2:n.*526A>G