Canonical Allele Identifier: CA7860035

Gene: MEFV

Linked Data

• dbSNP Id: rs766171186
• ExAC: 16:3294507 TG / T
• gnomAD v2: 16-3294507-TG-T
• gnomAD v4: 16-3244507-TG-T
• MyVariant Identifiers: chr16:g.3294508del (hg19) ; chr16:g.3244508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244508del , CM000678.2:g.3244508del	GRCh38
NC_000016.9:g.3294508del , CM000678.1:g.3294508del	GRCh37
NC_000016.8:g.3234509del	NCBI36
NG_007871.1:g.17120del , LRG_190:g.17120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.812del
ENST00000219596.6:c.1691del MANE Select	ENSP00000219596.1:p.Ser564Ter
ENST00000219596.5:c.1691del	ENSP00000219596.1:p.Ser564Ter
ENST00000339854.8:c.1151del	ENSP00000339639.4:p.Ser384Ter
ENST00000536379.5:c.1058del	ENSP00000445079.1:p.Ser353Ter
ENST00000536980.5:c.1058del	ENSP00000444178.1:p.Ser353Ter
ENST00000537682.5:c.1691del	ENSP00000438611.1:p.Ser564Ter
ENST00000538326.5:c.*316del	ENSP00000437486.1:n.*316del
ENST00000539145.5:c.612del	ENSP00000444471.1:n.612del
ENST00000541159.5:c.1058del	ENSP00000438711.1:p.Ser353Ter
ENST00000542898.5:c.1784del	ENSP00000444615.1:p.Ser595Ter
ENST00000570511.5:c.1165-616del	ENSP00000458312.1:n.1165-616del
ENST00000572244.5:c.381del	ENSP00000461186.1:n.381del
ENST00000574583.5:c.532-616del	ENSP00000460269.1:n.532-616del
ENST00000576315.5:c.532-222del	ENSP00000460551.1:n.532-222del
ENST00000621655.1:c.1058del	ENSP00000481436.1:p.Ser353Ter
NM_000243.2:c.1691del , LRG_190t1:c.1691del	NP_000234.1:p.Ser564Ter
NM_001198536.1:c.1058del	NP_001185465.1:p.Ser353Ter
XM_017023236.2:c.1688del	XP_016878725.1:p.Ser563Ter
XR_001751903.1:n.1880del
NM_000243.3:c.1691del MANE Select	NP_000234.1:p.Ser564Ter
NM_001198536.2:c.1058del	NP_001185465.2:p.Ser353Ter