Canonical Allele Identifier: CA280112

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2550
• ClinVar RCV Id: RCV000002659 ; RCV000216518 ; RCV001269325 ; RCV001283820 ; RCV002262549
• dbSNP Id: rs28940580
• ExAC: 16:3293447 C / T
• gnomAD v3: 16-3243447-C-T
• gnomAD v4: 16-3243447-C-T
• MyVariant Identifiers: chr16:g.3293447C>T (hg19) ; chr16:g.3243447C>T (hg38)
• PubMed: PMID:10090880 ; PMID:16234278 ; PMID:16255051 ; PMID:18353061 ; PMID:19449169 ; PMID:19845843 ; PMID:20669279

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243447C>T , CM000678.2:g.3243447C>T	GRCh38
NC_000016.9:g.3293447C>T , CM000678.1:g.3293447C>T	GRCh37
NC_000016.8:g.3233448C>T	NCBI36
NG_007871.1:g.18181G>A , LRG_190:g.18181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1161G>A
ENST00000219596.6:c.2040G>A MANE Select	ENSP00000219596.1:p.Met680Ile
ENST00000219596.5:c.2040G>A	ENSP00000219596.1:p.Met680Ile
ENST00000339854.8:c.1500G>A	ENSP00000339639.4:p.Met500Ile
ENST00000536379.5:c.1407G>A	ENSP00000445079.1:p.Met469Ile
ENST00000536980.5:c.*316G>A	ENSP00000444178.1:n.*316G>A
ENST00000537682.5:c.*316G>A	ENSP00000438611.1:n.*316G>A
ENST00000538326.5:c.*665G>A	ENSP00000437486.1:n.*665G>A
ENST00000539145.5:c.961G>A	ENSP00000444471.1:n.961G>A
ENST00000541159.5:c.1582G>A	ENSP00000438711.1:n.1582G>A
ENST00000542898.5:c.*316G>A	ENSP00000444615.1:n.*316G>A
ENST00000570511.5:c.1445G>A	ENSP00000458312.1:n.1445G>A
ENST00000572244.5:c.730G>A	ENSP00000461186.1:n.730G>A
ENST00000574583.5:c.812G>A	ENSP00000460269.1:n.812G>A
ENST00000576315.5:c.845G>A	ENSP00000460551.1:n.845G>A
ENST00000621655.1:c.1577G>A	ENSP00000481436.1:n.1577G>A
NM_000243.2:c.2040G>A , LRG_190t1:c.2040G>A	NP_000234.1:p.Met680Ile
NM_001198536.1:c.*244G>A	NP_001185465.1:n.*244G>A
XM_017023236.2:c.2037G>A	XP_016878725.1:p.Met679Ile
NM_000243.3:c.2040G>A MANE Select	NP_000234.1:p.Met680Ile
NM_001198536.2:c.*244G>A	NP_001185465.2:n.*244G>A