Canonical Allele Identifier: CA493258072

Gene: MEFV

Linked Data

• ClinVar Variation Id: 632888
• ClinVar RCV Id: RCV000780405
• dbSNP Id: rs1489831475
• gnomAD v2: 16-3293234-G-C
• gnomAD v4: 16-3243234-G-C
• MyVariant Identifiers: chr16:g.3293234G>C (hg19) ; chr16:g.3243234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243234G>C , CM000678.2:g.3243234G>C	GRCh38
NC_000016.9:g.3293234G>C , CM000678.1:g.3293234G>C	GRCh37
NC_000016.8:g.3233235G>C	NCBI36
NG_007871.1:g.18394C>G , LRG_190:g.18394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1374C>G
ENST00000219596.6:c.2253C>G MANE Select	ENSP00000219596.1:p.Pro751=
ENST00000219596.5:c.2253C>G	ENSP00000219596.1:p.Pro751=
ENST00000339854.8:c.1713C>G	ENSP00000339639.4:p.Pro571=
ENST00000536379.5:c.1620C>G	ENSP00000445079.1:p.Pro540=
ENST00000536980.5:c.*529C>G	ENSP00000444178.1:n.*529C>G
ENST00000537682.5:c.*529C>G	ENSP00000438611.1:n.*529C>G
ENST00000538326.5:c.*878C>G	ENSP00000437486.1:n.*878C>G
ENST00000539145.5:c.1174C>G	ENSP00000444471.1:n.1174C>G
ENST00000541159.5:c.1795C>G	ENSP00000438711.1:n.1795C>G
ENST00000542898.5:c.*529C>G	ENSP00000444615.1:n.*529C>G
ENST00000570511.5:c.1658C>G	ENSP00000458312.1:n.1658C>G
ENST00000572244.5:c.943C>G	ENSP00000461186.1:n.943C>G
ENST00000574583.5:c.1025C>G	ENSP00000460269.1:n.1025C>G
ENST00000576315.5:c.1058C>G	ENSP00000460551.1:n.1058C>G
ENST00000621655.1:c.1790C>G	ENSP00000481436.1:n.1790C>G
NM_000243.2:c.2253C>G , LRG_190t1:c.2253C>G	NP_000234.1:p.Pro751=
NM_001198536.1:c.*457C>G	NP_001185465.1:n.*457C>G
XM_017023236.2:c.2250C>G	XP_016878725.1:p.Pro750=
NM_000243.3:c.2253C>G MANE Select	NP_000234.1:p.Pro751=
NM_001198536.2:c.*457C>G	NP_001185465.2:n.*457C>G