Canonical Allele Identifier: CA493383722

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243372-G-A
• MyVariant Identifiers: chr16:g.3293372G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243372G>A , CM000678.2:g.3243372G>A	GRCh38
NC_000016.9:g.3293372G>A , CM000678.1:g.3293372G>A	GRCh37
NC_000016.8:g.3233373G>A	NCBI36
NG_007871.1:g.18256C>T , LRG_190:g.18256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1236C>T
ENST00000219596.6:c.2115C>T MANE Select	ENSP00000219596.1:p.Pro705=
ENST00000219596.5:c.2115C>T	ENSP00000219596.1:p.Pro705=
ENST00000339854.8:c.1575C>T	ENSP00000339639.4:p.Pro525=
ENST00000536379.5:c.1482C>T	ENSP00000445079.1:p.Pro494=
ENST00000536980.5:c.*391C>T	ENSP00000444178.1:n.*391C>T
ENST00000537682.5:c.*391C>T	ENSP00000438611.1:n.*391C>T
ENST00000538326.5:c.*740C>T	ENSP00000437486.1:n.*740C>T
ENST00000539145.5:c.1036C>T	ENSP00000444471.1:n.1036C>T
ENST00000541159.5:c.1657C>T	ENSP00000438711.1:n.1657C>T
ENST00000542898.5:c.*391C>T	ENSP00000444615.1:n.*391C>T
ENST00000570511.5:c.1520C>T	ENSP00000458312.1:n.1520C>T
ENST00000572244.5:c.805C>T	ENSP00000461186.1:n.805C>T
ENST00000574583.5:c.887C>T	ENSP00000460269.1:n.887C>T
ENST00000576315.5:c.920C>T	ENSP00000460551.1:n.920C>T
ENST00000621655.1:c.1652C>T	ENSP00000481436.1:n.1652C>T
NM_000243.2:c.2115C>T , LRG_190t1:c.2115C>T	NP_000234.1:p.Pro705=
NM_001198536.1:c.*319C>T	NP_001185465.1:n.*319C>T
XM_017023236.2:c.2112C>T	XP_016878725.1:p.Pro704=
NM_000243.3:c.2115C>T MANE Select	NP_000234.1:p.Pro705=
NM_001198536.2:c.*319C>T	NP_001185465.2:n.*319C>T