Canonical Allele Identifier: CA280530

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97496
• ClinVar RCV Id: RCV000083748 ; RCV000780404 ; RCV002262641 ; RCV003126449 ; RCV003126450
• dbSNP Id: rs104895202
• gnomAD v2: 16-3293365-G-A
• gnomAD v3: 16-3243365-G-A
• gnomAD v4: 16-3243365-G-A
• MyVariant Identifiers: chr16:g.3293365G>A (hg19) ; chr16:g.3243365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243365G>A , CM000678.2:g.3243365G>A	GRCh38
NC_000016.9:g.3293365G>A , CM000678.1:g.3293365G>A	GRCh37
NC_000016.8:g.3233366G>A	NCBI36
NG_007871.1:g.18263C>T , LRG_190:g.18263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1243C>T
ENST00000219596.6:c.2122C>T MANE Select	ENSP00000219596.1:p.Arg708Cys
ENST00000219596.5:c.2122C>T	ENSP00000219596.1:p.Arg708Cys
ENST00000339854.8:c.1582C>T	ENSP00000339639.4:p.Arg528Cys
ENST00000536379.5:c.1489C>T	ENSP00000445079.1:p.Arg497Cys
ENST00000536980.5:c.*398C>T	ENSP00000444178.1:n.*398C>T
ENST00000537682.5:c.*398C>T	ENSP00000438611.1:n.*398C>T
ENST00000538326.5:c.*747C>T	ENSP00000437486.1:n.*747C>T
ENST00000539145.5:c.1043C>T	ENSP00000444471.1:n.1043C>T
ENST00000541159.5:c.1664C>T	ENSP00000438711.1:n.1664C>T
ENST00000542898.5:c.*398C>T	ENSP00000444615.1:n.*398C>T
ENST00000570511.5:c.1527C>T	ENSP00000458312.1:n.1527C>T
ENST00000572244.5:c.812C>T	ENSP00000461186.1:n.812C>T
ENST00000574583.5:c.894C>T	ENSP00000460269.1:n.894C>T
ENST00000576315.5:c.927C>T	ENSP00000460551.1:n.927C>T
ENST00000621655.1:c.1659C>T	ENSP00000481436.1:n.1659C>T
NM_000243.2:c.2122C>T , LRG_190t1:c.2122C>T	NP_000234.1:p.Arg708Cys
NM_001198536.1:c.*326C>T	NP_001185465.1:n.*326C>T
XM_017023236.2:c.2119C>T	XP_016878725.1:p.Arg707Cys
NM_000243.3:c.2122C>T MANE Select	NP_000234.1:p.Arg708Cys
NM_001198536.2:c.*326C>T	NP_001185465.2:n.*326C>T