Canonical Allele Identifier: CA394488979

Gene: MEFV

Linked Data

• dbSNP Id: rs1958899378
• gnomAD v3: 16-3243890-G-A
• gnomAD v4: 16-3243890-G-A
• COSMIC: COSM5534426 ; COSM5534427
• MyVariant Identifiers: chr16:g.3293890G>A (hg19) ; chr16:g.3243890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243890G>A , CM000678.2:g.3243890G>A	GRCh38
NC_000016.9:g.3293890G>A , CM000678.1:g.3293890G>A	GRCh37
NC_000016.8:g.3233891G>A	NCBI36
NG_007871.1:g.17738C>T , LRG_190:g.17738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.883C>T
ENST00000219596.6:c.1762C>T MANE Select	ENSP00000219596.1:p.Pro588Ser
ENST00000219596.5:c.1762C>T	ENSP00000219596.1:p.Pro588Ser
ENST00000339854.8:c.1222C>T	ENSP00000339639.4:p.Pro408Ser
ENST00000536379.5:c.1129C>T	ENSP00000445079.1:p.Pro377Ser
ENST00000536980.5:c.*38C>T	ENSP00000444178.1:n.*38C>T
ENST00000537682.5:c.*38C>T	ENSP00000438611.1:n.*38C>T
ENST00000538326.5:c.*387C>T	ENSP00000437486.1:n.*387C>T
ENST00000539145.5:c.683C>T	ENSP00000444471.1:n.683C>T
ENST00000541159.5:c.1304C>T	ENSP00000438711.1:p.Ser435Phe
ENST00000542898.5:c.*38C>T	ENSP00000444615.1:n.*38C>T
ENST00000570511.5:c.1167C>T	ENSP00000458312.1:n.1167C>T
ENST00000572244.5:c.452C>T	ENSP00000461186.1:n.452C>T
ENST00000574583.5:c.534C>T	ENSP00000460269.1:n.534C>T
ENST00000576315.5:c.567C>T	ENSP00000460551.1:n.567C>T
ENST00000621655.1:c.1299C>T	ENSP00000481436.1:n.1299C>T
NM_000243.2:c.1762C>T , LRG_190t1:c.1762C>T	NP_000234.1:p.Pro588Ser
NM_001198536.1:c.1304C>T	NP_001185465.1:p.Ser435Phe
XM_017023236.2:c.1759C>T	XP_016878725.1:p.Pro587Ser
XR_001751903.1:n.2069C>T
NM_000243.3:c.1762C>T MANE Select	NP_000234.1:p.Pro588Ser
NM_001198536.2:c.1304C>T	NP_001185465.2:p.Ser435Phe