Canonical Allele Identifier: CA7859874

Gene: MEFV

Linked Data

• dbSNP Id: rs104895166
• ExAC: 16:3293382 G / T
• gnomAD v2: 16-3293382-G-T
• gnomAD v3: 16-3243382-G-T
• gnomAD v4: 16-3243382-G-T
• MyVariant Identifiers: chr16:g.3293382G>T (hg19) ; chr16:g.3243382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243382G>T , CM000678.2:g.3243382G>T	GRCh38
NC_000016.9:g.3293382G>T , CM000678.1:g.3293382G>T	GRCh37
NC_000016.8:g.3233383G>T	NCBI36
NG_007871.1:g.18246C>A , LRG_190:g.18246C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1226C>A
ENST00000219596.6:c.2105C>A MANE Select	ENSP00000219596.1:p.Ser702Tyr
ENST00000219596.5:c.2105C>A	ENSP00000219596.1:p.Ser702Tyr
ENST00000339854.8:c.1565C>A	ENSP00000339639.4:p.Ser522Tyr
ENST00000536379.5:c.1472C>A	ENSP00000445079.1:p.Ser491Tyr
ENST00000536980.5:c.*381C>A	ENSP00000444178.1:n.*381C>A
ENST00000537682.5:c.*381C>A	ENSP00000438611.1:n.*381C>A
ENST00000538326.5:c.*730C>A	ENSP00000437486.1:n.*730C>A
ENST00000539145.5:c.1026C>A	ENSP00000444471.1:n.1026C>A
ENST00000541159.5:c.1647C>A	ENSP00000438711.1:n.1647C>A
ENST00000542898.5:c.*381C>A	ENSP00000444615.1:n.*381C>A
ENST00000570511.5:c.1510C>A	ENSP00000458312.1:n.1510C>A
ENST00000572244.5:c.795C>A	ENSP00000461186.1:n.795C>A
ENST00000574583.5:c.877C>A	ENSP00000460269.1:n.877C>A
ENST00000576315.5:c.910C>A	ENSP00000460551.1:n.910C>A
ENST00000621655.1:c.1642C>A	ENSP00000481436.1:n.1642C>A
NM_000243.2:c.2105C>A , LRG_190t1:c.2105C>A	NP_000234.1:p.Ser702Tyr
NM_001198536.1:c.*309C>A	NP_001185465.1:n.*309C>A
XM_017023236.2:c.2102C>A	XP_016878725.1:p.Ser701Tyr
NM_000243.3:c.2105C>A MANE Select	NP_000234.1:p.Ser702Tyr
NM_001198536.2:c.*309C>A	NP_001185465.2:n.*309C>A