Canonical Allele Identifier: CA280550

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97503
• ClinVar RCV Id: RCV000083755 ; RCV002483162 ; RCV003126458 ; RCV003126457 ; RCV003133133
• dbSNP Id: rs104895152
• ExAC: 16:3293258 G / C
• gnomAD v2: 16-3293258-G-C
• gnomAD v3: 16-3243258-G-C
• gnomAD v4: 16-3243258-G-C
• MyVariant Identifiers: chr16:g.3293258G>C (hg19) ; chr16:g.3243258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243258G>C , CM000678.2:g.3243258G>C	GRCh38
NC_000016.9:g.3293258G>C , CM000678.1:g.3293258G>C	GRCh37
NC_000016.8:g.3233259G>C	NCBI36
NG_007871.1:g.18370C>G , LRG_190:g.18370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1350C>G
ENST00000219596.6:c.2229C>G MANE Select	ENSP00000219596.1:p.Phe743Leu
ENST00000219596.5:c.2229C>G	ENSP00000219596.1:p.Phe743Leu
ENST00000339854.8:c.1689C>G	ENSP00000339639.4:p.Phe563Leu
ENST00000536379.5:c.1596C>G	ENSP00000445079.1:p.Phe532Leu
ENST00000536980.5:c.*505C>G	ENSP00000444178.1:n.*505C>G
ENST00000537682.5:c.*505C>G	ENSP00000438611.1:n.*505C>G
ENST00000538326.5:c.*854C>G	ENSP00000437486.1:n.*854C>G
ENST00000539145.5:c.1150C>G	ENSP00000444471.1:n.1150C>G
ENST00000541159.5:c.1771C>G	ENSP00000438711.1:n.1771C>G
ENST00000542898.5:c.*505C>G	ENSP00000444615.1:n.*505C>G
ENST00000570511.5:c.1634C>G	ENSP00000458312.1:n.1634C>G
ENST00000572244.5:c.919C>G	ENSP00000461186.1:n.919C>G
ENST00000574583.5:c.1001C>G	ENSP00000460269.1:n.1001C>G
ENST00000576315.5:c.1034C>G	ENSP00000460551.1:n.1034C>G
ENST00000621655.1:c.1766C>G	ENSP00000481436.1:n.1766C>G
NM_000243.2:c.2229C>G , LRG_190t1:c.2229C>G	NP_000234.1:p.Phe743Leu
NM_001198536.1:c.*433C>G	NP_001185465.1:n.*433C>G
XM_017023236.2:c.2226C>G	XP_016878725.1:p.Phe742Leu
NM_000243.3:c.2229C>G MANE Select	NP_000234.1:p.Phe743Leu
NM_001198536.2:c.*433C>G	NP_001185465.2:n.*433C>G