Canonical Allele Identifier: CA394484395

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243172-A-G
• MyVariant Identifiers: chr16:g.3293172A>G (hg19) ; chr16:g.3243172A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243172A>G , CM000678.2:g.3243172A>G	GRCh38
NC_000016.9:g.3293172A>G , CM000678.1:g.3293172A>G	GRCh37
NC_000016.8:g.3233173A>G	NCBI36
NG_007871.1:g.18456T>C , LRG_190:g.18456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1436T>C
ENST00000219596.6:c.2315T>C MANE Select	ENSP00000219596.1:p.Ile772Thr
ENST00000219596.5:c.2315T>C	ENSP00000219596.1:p.Ile772Thr
ENST00000339854.8:c.1775T>C	ENSP00000339639.4:p.Ile592Thr
ENST00000536379.5:c.1682T>C	ENSP00000445079.1:p.Ile561Thr
ENST00000536980.5:c.*591T>C	ENSP00000444178.1:n.*591T>C
ENST00000537682.5:c.*591T>C	ENSP00000438611.1:n.*591T>C
ENST00000538326.5:c.*940T>C	ENSP00000437486.1:n.*940T>C
ENST00000539145.5:c.1236T>C	ENSP00000444471.1:n.1236T>C
ENST00000541159.5:c.1857T>C	ENSP00000438711.1:n.1857T>C
ENST00000542898.5:c.*591T>C	ENSP00000444615.1:n.*591T>C
ENST00000570511.5:c.1720T>C	ENSP00000458312.1:n.1720T>C
ENST00000572244.5:c.1005T>C	ENSP00000461186.1:n.1005T>C
ENST00000574583.5:c.1087T>C	ENSP00000460269.1:n.1087T>C
ENST00000576315.5:c.1120T>C	ENSP00000460551.1:n.1120T>C
ENST00000621655.1:c.1852T>C	ENSP00000481436.1:n.1852T>C
NM_000243.2:c.2315T>C , LRG_190t1:c.2315T>C	NP_000234.1:p.Ile772Thr
NM_001198536.1:c.*519T>C	NP_001185465.1:n.*519T>C
XM_017023236.2:c.2312T>C	XP_016878725.1:p.Ile771Thr
NM_000243.3:c.2315T>C MANE Select	NP_000234.1:p.Ile772Thr
NM_001198536.2:c.*519T>C	NP_001185465.2:n.*519T>C