Canonical Allele Identifier: CA10654935

Gene: MEFV

Linked Data

• ClinVar Variation Id: 369971
• ClinVar RCV Id: RCV000408827 ; RCV001269727
• dbSNP Id: rs1057516210
• gnomAD v4: 16-3244283-G-T
• MyVariant Identifiers: chr16:g.3294283G>T (hg19) ; chr16:g.3244283G>T (hg38)
• PubMed: PMID:20301405 ; PMID:23505238

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244283G>T , CM000678.2:g.3244283G>T	GRCh38
NC_000016.9:g.3294283G>T , CM000678.1:g.3294283G>T	GRCh37
NC_000016.8:g.3234284G>T	NCBI36
NG_007871.1:g.17345C>A , LRG_190:g.17345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.851C>A
ENST00000219596.6:c.1730C>A MANE Select	ENSP00000219596.1:p.Thr577Asn
ENST00000219596.5:c.1730C>A	ENSP00000219596.1:p.Thr577Asn
ENST00000339854.8:c.1190C>A	ENSP00000339639.4:p.Thr397Asn
ENST00000536379.5:c.1097C>A	ENSP00000445079.1:p.Thr366Asn
ENST00000536980.5:c.1097C>A	ENSP00000444178.1:p.Thr366Asn
ENST00000537682.5:c.1730C>A	ENSP00000438611.1:p.Thr577Asn
ENST00000538326.5:c.*355C>A	ENSP00000437486.1:n.*355C>A
ENST00000539145.5:c.651C>A	ENSP00000444471.1:n.651C>A
ENST00000541159.5:c.1097C>A	ENSP00000438711.1:p.Thr366Asn
ENST00000542898.5:c.1823C>A	ENSP00000444615.1:p.Thr608Asn
ENST00000570511.5:c.1165-391C>A	ENSP00000458312.1:n.1165-391C>A
ENST00000572244.5:c.420C>A	ENSP00000461186.1:n.420C>A
ENST00000574583.5:c.532-391C>A	ENSP00000460269.1:n.532-391C>A
ENST00000576315.5:c.535C>A	ENSP00000460551.1:n.535C>A
ENST00000621655.1:c.1097C>A	ENSP00000481436.1:p.Thr366Asn
NM_000243.2:c.1730C>A , LRG_190t1:c.1730C>A	NP_000234.1:p.Thr577Asn
NM_001198536.1:c.1097C>A	NP_001185465.1:p.Thr366Asn
XM_017023236.2:c.1727C>A	XP_016878725.1:p.Thr576Asn
XR_001751903.1:n.1919C>A
NM_000243.3:c.1730C>A MANE Select	NP_000234.1:p.Thr577Asn
NM_001198536.2:c.1097C>A	NP_001185465.2:p.Thr366Asn