Canonical Allele Identifier: CA7859882

Gene: MEFV

Linked Data

• ClinVar Variation Id: 942144
• ClinVar RCV Id: RCV001212071
• dbSNP Id: rs534682649
• ExAC: 16:3293439 G / A
• gnomAD v2: 16-3293439-G-A
• gnomAD v3: 16-3243439-G-A
• gnomAD v4: 16-3243439-G-A
• COSMIC: COSM3420966
• MyVariant Identifiers: chr16:g.3293439G>A (hg19) ; chr16:g.3243439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243439G>A , CM000678.2:g.3243439G>A	GRCh38
NC_000016.9:g.3293439G>A , CM000678.1:g.3293439G>A	GRCh37
NC_000016.8:g.3233440G>A	NCBI36
NG_007871.1:g.18189C>T , LRG_190:g.18189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1169C>T
ENST00000219596.6:c.2048C>T MANE Select	ENSP00000219596.1:p.Ser683Leu
ENST00000219596.5:c.2048C>T	ENSP00000219596.1:p.Ser683Leu
ENST00000339854.8:c.1508C>T	ENSP00000339639.4:p.Ser503Leu
ENST00000536379.5:c.1415C>T	ENSP00000445079.1:p.Ser472Leu
ENST00000536980.5:c.*324C>T	ENSP00000444178.1:n.*324C>T
ENST00000537682.5:c.*324C>T	ENSP00000438611.1:n.*324C>T
ENST00000538326.5:c.*673C>T	ENSP00000437486.1:n.*673C>T
ENST00000539145.5:c.969C>T	ENSP00000444471.1:n.969C>T
ENST00000541159.5:c.1590C>T	ENSP00000438711.1:n.1590C>T
ENST00000542898.5:c.*324C>T	ENSP00000444615.1:n.*324C>T
ENST00000570511.5:c.1453C>T	ENSP00000458312.1:n.1453C>T
ENST00000572244.5:c.738C>T	ENSP00000461186.1:n.738C>T
ENST00000574583.5:c.820C>T	ENSP00000460269.1:n.820C>T
ENST00000576315.5:c.853C>T	ENSP00000460551.1:n.853C>T
ENST00000621655.1:c.1585C>T	ENSP00000481436.1:n.1585C>T
NM_000243.2:c.2048C>T , LRG_190t1:c.2048C>T	NP_000234.1:p.Ser683Leu
NM_001198536.1:c.*252C>T	NP_001185465.1:n.*252C>T
XM_017023236.2:c.2045C>T	XP_016878725.1:p.Ser682Leu
NM_000243.3:c.2048C>T MANE Select	NP_000234.1:p.Ser683Leu
NM_001198536.2:c.*252C>T	NP_001185465.2:n.*252C>T