Canonical Allele Identifier: CA280472

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97473
• ClinVar RCV Id: RCV000083725 ; RCV002262637
• dbSNP Id: rs104895084
• gnomAD v4: 16-3243531-G-T
• MyVariant Identifiers: chr16:g.3293531G>T (hg19) ; chr16:g.3243531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243531G>T , CM000678.2:g.3243531G>T	GRCh38
NC_000016.9:g.3293531G>T , CM000678.1:g.3293531G>T	GRCh37
NC_000016.8:g.3233532G>T	NCBI36
NG_007871.1:g.18097C>A , LRG_190:g.18097C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1077C>A
ENST00000219596.6:c.1956C>A MANE Select	ENSP00000219596.1:p.Arg652=
ENST00000219596.5:c.1956C>A	ENSP00000219596.1:p.Arg652=
ENST00000339854.8:c.1416C>A	ENSP00000339639.4:p.Arg472=
ENST00000536379.5:c.1323C>A	ENSP00000445079.1:p.Arg441=
ENST00000536980.5:c.*232C>A	ENSP00000444178.1:n.*232C>A
ENST00000537682.5:c.*232C>A	ENSP00000438611.1:n.*232C>A
ENST00000538326.5:c.*581C>A	ENSP00000437486.1:n.*581C>A
ENST00000539145.5:c.877C>A	ENSP00000444471.1:n.877C>A
ENST00000541159.5:c.1498C>A	ENSP00000438711.1:n.1498C>A
ENST00000542898.5:c.*232C>A	ENSP00000444615.1:n.*232C>A
ENST00000570511.5:c.1361C>A	ENSP00000458312.1:n.1361C>A
ENST00000572244.5:c.646C>A	ENSP00000461186.1:n.646C>A
ENST00000574583.5:c.728C>A	ENSP00000460269.1:n.728C>A
ENST00000576315.5:c.761C>A	ENSP00000460551.1:n.761C>A
ENST00000621655.1:c.1493C>A	ENSP00000481436.1:n.1493C>A
NM_000243.2:c.1956C>A , LRG_190t1:c.1956C>A	NP_000234.1:p.Arg652=
NM_001198536.1:c.*160C>A	NP_001185465.1:n.*160C>A
XM_017023236.2:c.1953C>A	XP_016878725.1:p.Arg651=
NM_000243.3:c.1956C>A MANE Select	NP_000234.1:p.Arg652=
NM_001198536.2:c.*160C>A	NP_001185465.2:n.*160C>A