Canonical Allele Identifier: CA620433201

Gene: MEFV

Linked Data

• dbSNP Id: rs1336751964
• gnomAD v2: 16-3294526-TG-T
• MyVariant Identifiers: chr16:g.3294527del (hg19) ; chr16:g.3244527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244528del , CM000678.2:g.3244528del	GRCh38
NC_000016.9:g.3294528del , CM000678.1:g.3294528del	GRCh37
NC_000016.8:g.3234529del	NCBI36
NG_007871.1:g.17101del , LRG_190:g.17101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.793del
ENST00000219596.6:c.1672del MANE Select	ENSP00000219596.1:p.Gln558AsnfsTer?
ENST00000219596.5:c.1672del	ENSP00000219596.1:p.Gln558AsnfsTer?
ENST00000339854.8:c.1132del	ENSP00000339639.4:p.Gln378AsnfsTer?
ENST00000536379.5:c.1039del	ENSP00000445079.1:p.Gln347AsnfsTer?
ENST00000536980.5:c.1039del	ENSP00000444178.1:p.Gln347AsnfsTer?
ENST00000537682.5:c.1672del	ENSP00000438611.1:p.Gln558AsnfsTer?
ENST00000538326.5:c.*297del	ENSP00000437486.1:n.*297del
ENST00000539145.5:c.593del	ENSP00000444471.1:n.593del
ENST00000541159.5:c.1039del	ENSP00000438711.1:p.Gln347AsnfsTer?
ENST00000542898.5:c.1765del	ENSP00000444615.1:p.Gln589AsnfsTer?
ENST00000570511.5:c.1165-635del	ENSP00000458312.1:n.1165-635del
ENST00000572244.5:c.362del	ENSP00000461186.1:n.362del
ENST00000574583.5:c.532-635del	ENSP00000460269.1:n.532-635del
ENST00000576315.5:c.532-241del	ENSP00000460551.1:n.532-241del
ENST00000621655.1:c.1039del	ENSP00000481436.1:p.Gln347AsnfsTer?
NM_000243.2:c.1672del , LRG_190t1:c.1672del	NP_000234.1:p.Gln558AsnfsTer?
NM_001198536.1:c.1039del	NP_001185465.1:p.Gln347AsnfsTer?
XM_017023236.2:c.1669del	XP_016878725.1:p.Gln557AsnfsTer?
XR_001751903.1:n.1861del
NM_000243.3:c.1672del MANE Select	NP_000234.1:p.Gln558AsnfsTer?
NM_001198536.2:c.1039del	NP_001185465.2:p.Gln347AsnfsTer?