Canonical Allele Identifier: CA280555

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97505
• ClinVar RCV Id: RCV000083757 ; RCV000520754 ; RCV001000179 ; RCV002498441 ; RCV003126460 ; RCV003126459
• dbSNP Id: rs104895171
• ExAC: 16:3293241 G / C
• gnomAD v2: 16-3293241-G-C
• gnomAD v3: 16-3243241-G-C
• gnomAD v4: 16-3243241-G-C
• COSMIC: COSM703098
• MyVariant Identifiers: chr16:g.3293241G>C (hg19) ; chr16:g.3243241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243241G>C , CM000678.2:g.3243241G>C	GRCh38
NC_000016.9:g.3293241G>C , CM000678.1:g.3293241G>C	GRCh37
NC_000016.8:g.3233242G>C	NCBI36
NG_007871.1:g.18387C>G , LRG_190:g.18387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1367C>G
ENST00000219596.6:c.2246C>G MANE Select	ENSP00000219596.1:p.Ser749Cys
ENST00000219596.5:c.2246C>G	ENSP00000219596.1:p.Ser749Cys
ENST00000339854.8:c.1706C>G	ENSP00000339639.4:p.Ser569Cys
ENST00000536379.5:c.1613C>G	ENSP00000445079.1:p.Ser538Cys
ENST00000536980.5:c.*522C>G	ENSP00000444178.1:n.*522C>G
ENST00000537682.5:c.*522C>G	ENSP00000438611.1:n.*522C>G
ENST00000538326.5:c.*871C>G	ENSP00000437486.1:n.*871C>G
ENST00000539145.5:c.1167C>G	ENSP00000444471.1:n.1167C>G
ENST00000541159.5:c.1788C>G	ENSP00000438711.1:n.1788C>G
ENST00000542898.5:c.*522C>G	ENSP00000444615.1:n.*522C>G
ENST00000570511.5:c.1651C>G	ENSP00000458312.1:n.1651C>G
ENST00000572244.5:c.936C>G	ENSP00000461186.1:n.936C>G
ENST00000574583.5:c.1018C>G	ENSP00000460269.1:n.1018C>G
ENST00000576315.5:c.1051C>G	ENSP00000460551.1:n.1051C>G
ENST00000621655.1:c.1783C>G	ENSP00000481436.1:n.1783C>G
NM_000243.2:c.2246C>G , LRG_190t1:c.2246C>G	NP_000234.1:p.Ser749Cys
NM_001198536.1:c.*450C>G	NP_001185465.1:n.*450C>G
XM_017023236.2:c.2243C>G	XP_016878725.1:p.Ser748Cys
NM_000243.3:c.2246C>G MANE Select	NP_000234.1:p.Ser749Cys
NM_001198536.2:c.*450C>G	NP_001185465.2:n.*450C>G