Canonical Allele Identifier: CA493383671

Gene: MEFV

Linked Data

• dbSNP Id: rs1280453006
• gnomAD v4: 16-3243333-C-T
• MyVariant Identifiers: chr16:g.3293333C>T (hg19) ; chr16:g.3243333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243333C>T , CM000678.2:g.3243333C>T	GRCh38
NC_000016.9:g.3293333C>T , CM000678.1:g.3293333C>T	GRCh37
NC_000016.8:g.3233334C>T	NCBI36
NG_007871.1:g.18295G>A , LRG_190:g.18295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1275G>A
ENST00000219596.6:c.2154G>A MANE Select	ENSP00000219596.1:p.Val718=
ENST00000219596.5:c.2154G>A	ENSP00000219596.1:p.Val718=
ENST00000339854.8:c.1614G>A	ENSP00000339639.4:p.Val538=
ENST00000536379.5:c.1521G>A	ENSP00000445079.1:p.Val507=
ENST00000536980.5:c.*430G>A	ENSP00000444178.1:n.*430G>A
ENST00000537682.5:c.*430G>A	ENSP00000438611.1:n.*430G>A
ENST00000538326.5:c.*779G>A	ENSP00000437486.1:n.*779G>A
ENST00000539145.5:c.1075G>A	ENSP00000444471.1:n.1075G>A
ENST00000541159.5:c.1696G>A	ENSP00000438711.1:n.1696G>A
ENST00000542898.5:c.*430G>A	ENSP00000444615.1:n.*430G>A
ENST00000570511.5:c.1559G>A	ENSP00000458312.1:n.1559G>A
ENST00000572244.5:c.844G>A	ENSP00000461186.1:n.844G>A
ENST00000574583.5:c.926G>A	ENSP00000460269.1:n.926G>A
ENST00000576315.5:c.959G>A	ENSP00000460551.1:n.959G>A
ENST00000621655.1:c.1691G>A	ENSP00000481436.1:n.1691G>A
NM_000243.2:c.2154G>A , LRG_190t1:c.2154G>A	NP_000234.1:p.Val718=
NM_001198536.1:c.*358G>A	NP_001185465.1:n.*358G>A
XM_017023236.2:c.2151G>A	XP_016878725.1:p.Val717=
NM_000243.3:c.2154G>A MANE Select	NP_000234.1:p.Val718=
NM_001198536.2:c.*358G>A	NP_001185465.2:n.*358G>A