Canonical Allele Identifier: CA394486116

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243406-A-C
• MyVariant Identifiers: chr16:g.3293406A>C (hg19) ; chr16:g.3243406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243406A>C , CM000678.2:g.3243406A>C	GRCh38
NC_000016.9:g.3293406A>C , CM000678.1:g.3293406A>C	GRCh37
NC_000016.8:g.3233407A>C	NCBI36
NG_007871.1:g.18222T>G , LRG_190:g.18222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1202T>G
ENST00000219596.6:c.2081T>G MANE Select	ENSP00000219596.1:p.Met694Arg
ENST00000219596.5:c.2081T>G	ENSP00000219596.1:p.Met694Arg
ENST00000339854.8:c.1541T>G	ENSP00000339639.4:p.Met514Arg
ENST00000536379.5:c.1448T>G	ENSP00000445079.1:p.Met483Arg
ENST00000536980.5:c.*357T>G	ENSP00000444178.1:n.*357T>G
ENST00000537682.5:c.*357T>G	ENSP00000438611.1:n.*357T>G
ENST00000538326.5:c.*706T>G	ENSP00000437486.1:n.*706T>G
ENST00000539145.5:c.1002T>G	ENSP00000444471.1:n.1002T>G
ENST00000541159.5:c.1623T>G	ENSP00000438711.1:n.1623T>G
ENST00000542898.5:c.*357T>G	ENSP00000444615.1:n.*357T>G
ENST00000570511.5:c.1486T>G	ENSP00000458312.1:n.1486T>G
ENST00000572244.5:c.771T>G	ENSP00000461186.1:n.771T>G
ENST00000574583.5:c.853T>G	ENSP00000460269.1:n.853T>G
ENST00000576315.5:c.886T>G	ENSP00000460551.1:n.886T>G
ENST00000621655.1:c.1618T>G	ENSP00000481436.1:n.1618T>G
NM_000243.2:c.2081T>G , LRG_190t1:c.2081T>G	NP_000234.1:p.Met694Arg
NM_001198536.1:c.*285T>G	NP_001185465.1:n.*285T>G
XM_017023236.2:c.2078T>G	XP_016878725.1:p.Met693Arg
NM_000243.3:c.2081T>G MANE Select	NP_000234.1:p.Met694Arg
NM_001198536.2:c.*285T>G	NP_001185465.2:n.*285T>G