Canonical Allele Identifier: CA280572

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97511
• ClinVar RCV Id: RCV000083763 ; RCV000217446 ; RCV002298469 ; RCV002262642 ; RCV003126467 ; RCV003126468
• dbSNP Id: rs104895154
• ExAC: 16:3293149 G / T
• gnomAD v2: 16-3293149-G-T
• gnomAD v3: 16-3243149-G-T
• gnomAD v4: 16-3243149-G-T
• MyVariant Identifiers: chr16:g.3293149G>T (hg19) ; chr16:g.3243149G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243149G>T , CM000678.2:g.3243149G>T	GRCh38
NC_000016.9:g.3293149G>T , CM000678.1:g.3293149G>T	GRCh37
NC_000016.8:g.3233150G>T	NCBI36
NG_007871.1:g.18479C>A , LRG_190:g.18479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1459C>A
ENST00000219596.6:c.2338C>A MANE Select	ENSP00000219596.1:p.Pro780Thr
ENST00000219596.5:c.2338C>A	ENSP00000219596.1:p.Pro780Thr
ENST00000339854.8:c.1798C>A	ENSP00000339639.4:p.Pro600Thr
ENST00000536379.5:c.1705C>A	ENSP00000445079.1:p.Pro569Thr
ENST00000536980.5:c.*614C>A	ENSP00000444178.1:n.*614C>A
ENST00000537682.5:c.*614C>A	ENSP00000438611.1:n.*614C>A
ENST00000538326.5:c.*963C>A	ENSP00000437486.1:n.*963C>A
ENST00000539145.5:c.1259C>A	ENSP00000444471.1:n.1259C>A
ENST00000541159.5:c.1880C>A	ENSP00000438711.1:n.1880C>A
ENST00000542898.5:c.*614C>A	ENSP00000444615.1:n.*614C>A
ENST00000570511.5:c.1743C>A	ENSP00000458312.1:n.1743C>A
ENST00000572244.5:c.1028C>A	ENSP00000461186.1:n.1028C>A
ENST00000574583.5:c.1110C>A	ENSP00000460269.1:n.1110C>A
ENST00000576315.5:c.1143C>A	ENSP00000460551.1:n.1143C>A
ENST00000621655.1:c.1875C>A	ENSP00000481436.1:n.1875C>A
NM_000243.2:c.2338C>A , LRG_190t1:c.2338C>A	NP_000234.1:p.Pro780Thr
NM_001198536.1:c.*542C>A	NP_001185465.1:n.*542C>A
XM_017023236.2:c.2335C>A	XP_016878725.1:p.Pro779Thr
NM_000243.3:c.2338C>A MANE Select	NP_000234.1:p.Pro780Thr
NM_001198536.2:c.*542C>A	NP_001185465.2:n.*542C>A