Canonical Allele Identifier: CA7859930

Gene: MEFV

Linked Data

• ClinVar Variation Id: 803185
• ClinVar RCV Id: RCV000989480 ; RCV003127572 ; RCV003127571
• dbSNP Id: rs141706767
• ExAC: 16:3293879 A / C
• gnomAD v2: 16-3293879-A-C
• gnomAD v3: 16-3243879-A-C
• gnomAD v4: 16-3243879-A-C
• MyVariant Identifiers: chr16:g.3293879A>C (hg19) ; chr16:g.3243879A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243879A>C , CM000678.2:g.3243879A>C	GRCh38
NC_000016.9:g.3293879A>C , CM000678.1:g.3293879A>C	GRCh37
NC_000016.8:g.3233880A>C	NCBI36
NG_007871.1:g.17749T>G , LRG_190:g.17749T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.894T>G
ENST00000219596.6:c.1773T>G MANE Select	ENSP00000219596.1:p.Ile591Met
ENST00000219596.5:c.1773T>G	ENSP00000219596.1:p.Ile591Met
ENST00000339854.8:c.1233T>G	ENSP00000339639.4:p.Ile411Met
ENST00000536379.5:c.1140T>G	ENSP00000445079.1:p.Ile380Met
ENST00000536980.5:c.*49T>G	ENSP00000444178.1:n.*49T>G
ENST00000537682.5:c.*49T>G	ENSP00000438611.1:n.*49T>G
ENST00000538326.5:c.*398T>G	ENSP00000437486.1:n.*398T>G
ENST00000539145.5:c.694T>G	ENSP00000444471.1:n.694T>G
ENST00000541159.5:c.1315T>G	ENSP00000438711.1:p.Trp439Gly
ENST00000542898.5:c.*49T>G	ENSP00000444615.1:n.*49T>G
ENST00000570511.5:c.1178T>G	ENSP00000458312.1:n.1178T>G
ENST00000572244.5:c.463T>G	ENSP00000461186.1:n.463T>G
ENST00000574583.5:c.545T>G	ENSP00000460269.1:n.545T>G
ENST00000576315.5:c.578T>G	ENSP00000460551.1:n.578T>G
ENST00000621655.1:c.1310T>G	ENSP00000481436.1:n.1310T>G
NM_000243.2:c.1773T>G , LRG_190t1:c.1773T>G	NP_000234.1:p.Ile591Met
NM_001198536.1:c.1315T>G	NP_001185465.1:p.Trp439Gly
XM_017023236.2:c.1770T>G	XP_016878725.1:p.Ile590Met
XR_001751903.1:n.2080T>G
NM_000243.3:c.1773T>G MANE Select	NP_000234.1:p.Ile591Met
NM_001198536.2:c.1315T>G	NP_001185465.2:p.Trp439Gly