Canonical Allele Identifier: CA493383625

Gene: MEFV

Linked Data

• gnomAD v4: 16-3247049-G-A
• MyVariant Identifiers: chr16:g.3297049G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247049G>A , CM000678.2:g.3247049G>A	GRCh38
NC_000016.9:g.3297049G>A , CM000678.1:g.3297049G>A	GRCh37
NC_000016.8:g.3237050G>A	NCBI36
NG_007871.1:g.14579C>T , LRG_190:g.14579C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1554C>T MANE Select	ENSP00000219596.1:p.Ala518=
ENST00000219596.5:c.1554C>T	ENSP00000219596.1:p.Ala518=
ENST00000339854.8:c.1014C>T	ENSP00000339639.4:p.Ala338=
ENST00000536379.5:c.921C>T	ENSP00000445079.1:p.Ala307=
ENST00000536980.5:c.921C>T	ENSP00000444178.1:p.Ala307=
ENST00000537682.5:c.1554C>T	ENSP00000438611.1:p.Ala518=
ENST00000538326.5:c.*179C>T	ENSP00000437486.1:n.*179C>T
ENST00000539145.5:c.475C>T	ENSP00000444471.1:n.475C>T
ENST00000539154.1:n.919C>T
ENST00000541159.5:c.921C>T	ENSP00000438711.1:p.Ala307=
ENST00000542898.5:c.1647C>T	ENSP00000444615.1:p.Ala549=
ENST00000570511.5:c.1108C>T	ENSP00000458312.1:n.1108C>T
ENST00000572244.5:c.278-502C>T	ENSP00000461186.1:n.278-502C>T
ENST00000574583.5:c.475C>T	ENSP00000460269.1:n.475C>T
ENST00000576315.5:c.475C>T	ENSP00000460551.1:n.475C>T
ENST00000621655.1:c.921C>T	ENSP00000481436.1:p.Ala307=
NM_000243.2:c.1554C>T , LRG_190t1:c.1554C>T	NP_000234.1:p.Ala518=
NM_001198536.1:c.921C>T	NP_001185465.1:p.Ala307=
XM_017023236.2:c.1551C>T	XP_016878725.1:p.Ala517=
XR_001751903.1:n.1743C>T
NM_000243.3:c.1554C>T MANE Select	NP_000234.1:p.Ala518=
NM_001198536.2:c.921C>T	NP_001185465.2:p.Ala307=