Canonical Allele Identifier: CA280323

Gene: MEFV

Linked Data

• ClinVar Variation Id: 56148
• ClinVar RCV Id: RCV000049558 ; RCV000216370
• dbSNP Id: rs387907570
• gnomAD v2: 16-3293427-C-T
• gnomAD v4: 16-3243427-C-T
• MyVariant Identifiers: chr16:g.3293427C>T (hg19) ; chr16:g.3243427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243427C>T , CM000678.2:g.3243427C>T	GRCh38
NC_000016.9:g.3293427C>T , CM000678.1:g.3293427C>T	GRCh37
NC_000016.8:g.3233428C>T	NCBI36
NG_007871.1:g.18201G>A , LRG_190:g.18201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1181G>A
ENST00000219596.6:c.2060G>A MANE Select	ENSP00000219596.1:p.Gly687Asp
ENST00000219596.5:c.2060G>A	ENSP00000219596.1:p.Gly687Asp
ENST00000339854.8:c.1520G>A	ENSP00000339639.4:p.Gly507Asp
ENST00000536379.5:c.1427G>A	ENSP00000445079.1:p.Gly476Asp
ENST00000536980.5:c.*336G>A	ENSP00000444178.1:n.*336G>A
ENST00000537682.5:c.*336G>A	ENSP00000438611.1:n.*336G>A
ENST00000538326.5:c.*685G>A	ENSP00000437486.1:n.*685G>A
ENST00000539145.5:c.981G>A	ENSP00000444471.1:n.981G>A
ENST00000541159.5:c.1602G>A	ENSP00000438711.1:n.1602G>A
ENST00000542898.5:c.*336G>A	ENSP00000444615.1:n.*336G>A
ENST00000570511.5:c.1465G>A	ENSP00000458312.1:n.1465G>A
ENST00000572244.5:c.750G>A	ENSP00000461186.1:n.750G>A
ENST00000574583.5:c.832G>A	ENSP00000460269.1:n.832G>A
ENST00000576315.5:c.865G>A	ENSP00000460551.1:n.865G>A
ENST00000621655.1:c.1597G>A	ENSP00000481436.1:n.1597G>A
NM_000243.2:c.2060G>A , LRG_190t1:c.2060G>A	NP_000234.1:p.Gly687Asp
NM_001198536.1:c.*264G>A	NP_001185465.1:n.*264G>A
XM_017023236.2:c.2057G>A	XP_016878725.1:p.Gly686Asp
NM_000243.3:c.2060G>A MANE Select	NP_000234.1:p.Gly687Asp
NM_001198536.2:c.*264G>A	NP_001185465.2:n.*264G>A