Canonical Allele Identifier: CA280539

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97499
• ClinVar RCV Id: RCV000083751 ; RCV000780406 ; RCV004529874 ; RCV003126452 ; RCV003126451
• dbSNP Id: rs104895102
• ExAC: 16:3293327 G / C
• gnomAD v2: 16-3293327-G-C
• gnomAD v3: 16-3243327-G-C
• gnomAD v4: 16-3243327-G-C
• MyVariant Identifiers: chr16:g.3293327G>C (hg19) ; chr16:g.3243327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243327G>C , CM000678.2:g.3243327G>C	GRCh38
NC_000016.9:g.3293327G>C , CM000678.1:g.3293327G>C	GRCh37
NC_000016.8:g.3233328G>C	NCBI36
NG_007871.1:g.18301C>G , LRG_190:g.18301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1281C>G
ENST00000219596.6:c.2160C>G MANE Select	ENSP00000219596.1:p.Ile720Met
ENST00000219596.5:c.2160C>G	ENSP00000219596.1:p.Ile720Met
ENST00000339854.8:c.1620C>G	ENSP00000339639.4:p.Ile540Met
ENST00000536379.5:c.1527C>G	ENSP00000445079.1:p.Ile509Met
ENST00000536980.5:c.*436C>G	ENSP00000444178.1:n.*436C>G
ENST00000537682.5:c.*436C>G	ENSP00000438611.1:n.*436C>G
ENST00000538326.5:c.*785C>G	ENSP00000437486.1:n.*785C>G
ENST00000539145.5:c.1081C>G	ENSP00000444471.1:n.1081C>G
ENST00000541159.5:c.1702C>G	ENSP00000438711.1:n.1702C>G
ENST00000542898.5:c.*436C>G	ENSP00000444615.1:n.*436C>G
ENST00000570511.5:c.1565C>G	ENSP00000458312.1:n.1565C>G
ENST00000572244.5:c.850C>G	ENSP00000461186.1:n.850C>G
ENST00000574583.5:c.932C>G	ENSP00000460269.1:n.932C>G
ENST00000576315.5:c.965C>G	ENSP00000460551.1:n.965C>G
ENST00000621655.1:c.1697C>G	ENSP00000481436.1:n.1697C>G
NM_000243.2:c.2160C>G , LRG_190t1:c.2160C>G	NP_000234.1:p.Ile720Met
NM_001198536.1:c.*364C>G	NP_001185465.1:n.*364C>G
XM_017023236.2:c.2157C>G	XP_016878725.1:p.Ile719Met
NM_000243.3:c.2160C>G MANE Select	NP_000234.1:p.Ile720Met
NM_001198536.2:c.*364C>G	NP_001185465.2:n.*364C>G