Canonical Allele Identifier: CA280449

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97464
• ClinVar RCV Id: RCV000083716 ; RCV000218478 ; RCV002262636 ; RCV002505013 ; RCV003126436 ; RCV003126435
• dbSNP Id: rs104895210
• ExAC: 16:3293692 T / C
• gnomAD v2: 16-3293692-T-C
• gnomAD v3: 16-3243692-T-C
• gnomAD v4: 16-3243692-T-C
• MyVariant Identifiers: chr16:g.3293692T>C (hg19) ; chr16:g.3243692T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243692T>C , CM000678.2:g.3243692T>C	GRCh38
NC_000016.9:g.3293692T>C , CM000678.1:g.3293692T>C	GRCh37
NC_000016.8:g.3233693T>C	NCBI36
NG_007871.1:g.17936A>G , LRG_190:g.17936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.916A>G
ENST00000219596.6:c.1795A>G MANE Select	ENSP00000219596.1:p.Asn599Asp
ENST00000219596.5:c.1795A>G	ENSP00000219596.1:p.Asn599Asp
ENST00000339854.8:c.1255A>G	ENSP00000339639.4:p.Asn419Asp
ENST00000536379.5:c.1162A>G	ENSP00000445079.1:p.Asn388Asp
ENST00000536980.5:c.*71A>G	ENSP00000444178.1:n.*71A>G
ENST00000537682.5:c.*71A>G	ENSP00000438611.1:n.*71A>G
ENST00000538326.5:c.*420A>G	ENSP00000437486.1:n.*420A>G
ENST00000539145.5:c.716A>G	ENSP00000444471.1:n.716A>G
ENST00000541159.5:c.1337A>G	ENSP00000438711.1:p.Ter446=
ENST00000542898.5:c.*71A>G	ENSP00000444615.1:n.*71A>G
ENST00000570511.5:c.1200A>G	ENSP00000458312.1:n.1200A>G
ENST00000572244.5:c.485A>G	ENSP00000461186.1:n.485A>G
ENST00000574583.5:c.567A>G	ENSP00000460269.1:n.567A>G
ENST00000576315.5:c.600A>G	ENSP00000460551.1:n.600A>G
ENST00000621655.1:c.1332A>G	ENSP00000481436.1:n.1332A>G
NM_000243.2:c.1795A>G , LRG_190t1:c.1795A>G	NP_000234.1:p.Asn599Asp
NM_001198536.1:c.1337A>G	NP_001185465.1:p.Ter446=
XM_017023236.2:c.1792A>G	XP_016878725.1:p.Asn598Asp
XR_001751903.1:n.2102A>G
NM_000243.3:c.1795A>G MANE Select	NP_000234.1:p.Asn599Asp
NM_001198536.2:c.1337A>G	NP_001185465.2:p.Ter446=