Canonical Allele Identifier: CA394486312

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1510093
• ClinVar RCV Id: RCV002011506
• dbSNP Id: rs1487302096
• gnomAD v3: 16-3243421-C-A
• gnomAD v4: 16-3243421-C-A
• MyVariant Identifiers: chr16:g.3293421C>A (hg19) ; chr16:g.3243421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243421C>A , CM000678.2:g.3243421C>A	GRCh38
NC_000016.9:g.3293421C>A , CM000678.1:g.3293421C>A	GRCh37
NC_000016.8:g.3233422C>A	NCBI36
NG_007871.1:g.18207G>T , LRG_190:g.18207G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1187G>T
ENST00000219596.6:c.2066G>T MANE Select	ENSP00000219596.1:p.Trp689Leu
ENST00000219596.5:c.2066G>T	ENSP00000219596.1:p.Trp689Leu
ENST00000339854.8:c.1526G>T	ENSP00000339639.4:p.Trp509Leu
ENST00000536379.5:c.1433G>T	ENSP00000445079.1:p.Trp478Leu
ENST00000536980.5:c.*342G>T	ENSP00000444178.1:n.*342G>T
ENST00000537682.5:c.*342G>T	ENSP00000438611.1:n.*342G>T
ENST00000538326.5:c.*691G>T	ENSP00000437486.1:n.*691G>T
ENST00000539145.5:c.987G>T	ENSP00000444471.1:n.987G>T
ENST00000541159.5:c.1608G>T	ENSP00000438711.1:n.1608G>T
ENST00000542898.5:c.*342G>T	ENSP00000444615.1:n.*342G>T
ENST00000570511.5:c.1471G>T	ENSP00000458312.1:n.1471G>T
ENST00000572244.5:c.756G>T	ENSP00000461186.1:n.756G>T
ENST00000574583.5:c.838G>T	ENSP00000460269.1:n.838G>T
ENST00000576315.5:c.871G>T	ENSP00000460551.1:n.871G>T
ENST00000621655.1:c.1603G>T	ENSP00000481436.1:n.1603G>T
NM_000243.2:c.2066G>T , LRG_190t1:c.2066G>T	NP_000234.1:p.Trp689Leu
NM_001198536.1:c.*270G>T	NP_001185465.1:n.*270G>T
XM_017023236.2:c.2063G>T	XP_016878725.1:p.Trp688Leu
NM_000243.3:c.2066G>T MANE Select	NP_000234.1:p.Trp689Leu
NM_001198536.2:c.*270G>T	NP_001185465.2:n.*270G>T