Canonical Allele Identifier: CA394487526

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243543-G-T
• MyVariant Identifiers: chr16:g.3293543G>T (hg19) ; chr16:g.3243543G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243543G>T , CM000678.2:g.3243543G>T	GRCh38
NC_000016.9:g.3293543G>T , CM000678.1:g.3293543G>T	GRCh37
NC_000016.8:g.3233544G>T	NCBI36
NG_007871.1:g.18085C>A , LRG_190:g.18085C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1065C>A
ENST00000219596.6:c.1944C>A MANE Select	ENSP00000219596.1:p.Phe648Leu
ENST00000219596.5:c.1944C>A	ENSP00000219596.1:p.Phe648Leu
ENST00000339854.8:c.1404C>A	ENSP00000339639.4:p.Phe468Leu
ENST00000536379.5:c.1311C>A	ENSP00000445079.1:p.Phe437Leu
ENST00000536980.5:c.*220C>A	ENSP00000444178.1:n.*220C>A
ENST00000537682.5:c.*220C>A	ENSP00000438611.1:n.*220C>A
ENST00000538326.5:c.*569C>A	ENSP00000437486.1:n.*569C>A
ENST00000539145.5:c.865C>A	ENSP00000444471.1:n.865C>A
ENST00000541159.5:c.1486C>A	ENSP00000438711.1:n.1486C>A
ENST00000542898.5:c.*220C>A	ENSP00000444615.1:n.*220C>A
ENST00000570511.5:c.1349C>A	ENSP00000458312.1:n.1349C>A
ENST00000572244.5:c.634C>A	ENSP00000461186.1:n.634C>A
ENST00000574583.5:c.716C>A	ENSP00000460269.1:n.716C>A
ENST00000576315.5:c.749C>A	ENSP00000460551.1:n.749C>A
ENST00000621655.1:c.1481C>A	ENSP00000481436.1:n.1481C>A
NM_000243.2:c.1944C>A , LRG_190t1:c.1944C>A	NP_000234.1:p.Phe648Leu
NM_001198536.1:c.*148C>A	NP_001185465.1:n.*148C>A
XM_017023236.2:c.1941C>A	XP_016878725.1:p.Phe647Leu
NM_000243.3:c.1944C>A MANE Select	NP_000234.1:p.Phe648Leu
NM_001198536.2:c.*148C>A	NP_001185465.2:n.*148C>A