Canonical Allele Identifier: CA493383718

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1627026
• ClinVar RCV Id: RCV002132821
• dbSNP Id: rs1366208284
• gnomAD v2: 16-3293366-G-C
• gnomAD v3: 16-3243366-G-C
• gnomAD v4: 16-3243366-G-C
• MyVariant Identifiers: chr16:g.3293366G>C (hg19) ; chr16:g.3243366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243366G>C , CM000678.2:g.3243366G>C	GRCh38
NC_000016.9:g.3293366G>C , CM000678.1:g.3293366G>C	GRCh37
NC_000016.8:g.3233367G>C	NCBI36
NG_007871.1:g.18262C>G , LRG_190:g.18262C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1242C>G
ENST00000219596.6:c.2121C>G MANE Select	ENSP00000219596.1:p.Thr707=
ENST00000219596.5:c.2121C>G	ENSP00000219596.1:p.Thr707=
ENST00000339854.8:c.1581C>G	ENSP00000339639.4:p.Thr527=
ENST00000536379.5:c.1488C>G	ENSP00000445079.1:p.Thr496=
ENST00000536980.5:c.*397C>G	ENSP00000444178.1:n.*397C>G
ENST00000537682.5:c.*397C>G	ENSP00000438611.1:n.*397C>G
ENST00000538326.5:c.*746C>G	ENSP00000437486.1:n.*746C>G
ENST00000539145.5:c.1042C>G	ENSP00000444471.1:n.1042C>G
ENST00000541159.5:c.1663C>G	ENSP00000438711.1:n.1663C>G
ENST00000542898.5:c.*397C>G	ENSP00000444615.1:n.*397C>G
ENST00000570511.5:c.1526C>G	ENSP00000458312.1:n.1526C>G
ENST00000572244.5:c.811C>G	ENSP00000461186.1:n.811C>G
ENST00000574583.5:c.893C>G	ENSP00000460269.1:n.893C>G
ENST00000576315.5:c.926C>G	ENSP00000460551.1:n.926C>G
ENST00000621655.1:c.1658C>G	ENSP00000481436.1:n.1658C>G
NM_000243.2:c.2121C>G , LRG_190t1:c.2121C>G	NP_000234.1:p.Thr707=
NM_001198536.1:c.*325C>G	NP_001185465.1:n.*325C>G
XM_017023236.2:c.2118C>G	XP_016878725.1:p.Thr706=
NM_000243.3:c.2121C>G MANE Select	NP_000234.1:p.Thr707=
NM_001198536.2:c.*325C>G	NP_001185465.2:n.*325C>G