Canonical Allele Identifier: CA493208400

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2980370
• ClinVar RCV Id: RCV003837544
• gnomAD v4: 16-3244528-G-T
• MyVariant Identifiers: chr16:g.3294528G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244528G>T , CM000678.2:g.3244528G>T	GRCh38
NC_000016.9:g.3294528G>T , CM000678.1:g.3294528G>T	GRCh37
NC_000016.8:g.3234529G>T	NCBI36
NG_007871.1:g.17100C>A , LRG_190:g.17100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.792C>A
ENST00000219596.6:c.1671C>A MANE Select	ENSP00000219596.1:p.Ile557=
ENST00000219596.5:c.1671C>A	ENSP00000219596.1:p.Ile557=
ENST00000339854.8:c.1131C>A	ENSP00000339639.4:p.Ile377=
ENST00000536379.5:c.1038C>A	ENSP00000445079.1:p.Ile346=
ENST00000536980.5:c.1038C>A	ENSP00000444178.1:p.Ile346=
ENST00000537682.5:c.1671C>A	ENSP00000438611.1:p.Ile557=
ENST00000538326.5:c.*296C>A	ENSP00000437486.1:n.*296C>A
ENST00000539145.5:c.592C>A	ENSP00000444471.1:n.592C>A
ENST00000541159.5:c.1038C>A	ENSP00000438711.1:p.Ile346=
ENST00000542898.5:c.1764C>A	ENSP00000444615.1:p.Ile588=
ENST00000570511.5:c.1165-636C>A	ENSP00000458312.1:n.1165-636C>A
ENST00000572244.5:c.361C>A	ENSP00000461186.1:n.361C>A
ENST00000574583.5:c.532-636C>A	ENSP00000460269.1:n.532-636C>A
ENST00000576315.5:c.532-242C>A	ENSP00000460551.1:n.532-242C>A
ENST00000621655.1:c.1038C>A	ENSP00000481436.1:p.Ile346=
NM_000243.2:c.1671C>A , LRG_190t1:c.1671C>A	NP_000234.1:p.Ile557=
NM_001198536.1:c.1038C>A	NP_001185465.1:p.Ile346=
XM_017023236.2:c.1668C>A	XP_016878725.1:p.Ile556=
XR_001751903.1:n.1860C>A
NM_000243.3:c.1671C>A MANE Select	NP_000234.1:p.Ile557=
NM_001198536.2:c.1038C>A	NP_001185465.2:p.Ile346=