Canonical Allele Identifier: CA7859851

Gene: MEFV

Linked Data

• dbSNP Id: rs777833894
• ExAC: 16:3293265 T / C
• gnomAD v2: 16-3293265-T-C
• gnomAD v3: 16-3243265-T-C
• gnomAD v4: 16-3243265-T-C
• MyVariant Identifiers: chr16:g.3293265T>C (hg19) ; chr16:g.3243265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243265T>C , CM000678.2:g.3243265T>C	GRCh38
NC_000016.9:g.3293265T>C , CM000678.1:g.3293265T>C	GRCh37
NC_000016.8:g.3233266T>C	NCBI36
NG_007871.1:g.18363A>G , LRG_190:g.18363A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1343A>G
ENST00000219596.6:c.2222A>G MANE Select	ENSP00000219596.1:p.Tyr741Cys
ENST00000219596.5:c.2222A>G	ENSP00000219596.1:p.Tyr741Cys
ENST00000339854.8:c.1682A>G	ENSP00000339639.4:p.Tyr561Cys
ENST00000536379.5:c.1589A>G	ENSP00000445079.1:p.Tyr530Cys
ENST00000536980.5:c.*498A>G	ENSP00000444178.1:n.*498A>G
ENST00000537682.5:c.*498A>G	ENSP00000438611.1:n.*498A>G
ENST00000538326.5:c.*847A>G	ENSP00000437486.1:n.*847A>G
ENST00000539145.5:c.1143A>G	ENSP00000444471.1:n.1143A>G
ENST00000541159.5:c.1764A>G	ENSP00000438711.1:n.1764A>G
ENST00000542898.5:c.*498A>G	ENSP00000444615.1:n.*498A>G
ENST00000570511.5:c.1627A>G	ENSP00000458312.1:n.1627A>G
ENST00000572244.5:c.912A>G	ENSP00000461186.1:n.912A>G
ENST00000574583.5:c.994A>G	ENSP00000460269.1:n.994A>G
ENST00000576315.5:c.1027A>G	ENSP00000460551.1:n.1027A>G
ENST00000621655.1:c.1759A>G	ENSP00000481436.1:n.1759A>G
NM_000243.2:c.2222A>G , LRG_190t1:c.2222A>G	NP_000234.1:p.Tyr741Cys
NM_001198536.1:c.*426A>G	NP_001185465.1:n.*426A>G
XM_017023236.2:c.2219A>G	XP_016878725.1:p.Tyr740Cys
NM_000243.3:c.2222A>G MANE Select	NP_000234.1:p.Tyr741Cys
NM_001198536.2:c.*426A>G	NP_001185465.2:n.*426A>G