Canonical Allele Identifier: CA493258018

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243225-A-G
• MyVariant Identifiers: chr16:g.3293225A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243225A>G , CM000678.2:g.3243225A>G	GRCh38
NC_000016.9:g.3293225A>G , CM000678.1:g.3293225A>G	GRCh37
NC_000016.8:g.3233226A>G	NCBI36
NG_007871.1:g.18403T>C , LRG_190:g.18403T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1383T>C
ENST00000219596.6:c.2262T>C MANE Select	ENSP00000219596.1:p.Pro754=
ENST00000219596.5:c.2262T>C	ENSP00000219596.1:p.Pro754=
ENST00000339854.8:c.1722T>C	ENSP00000339639.4:p.Pro574=
ENST00000536379.5:c.1629T>C	ENSP00000445079.1:p.Pro543=
ENST00000536980.5:c.*538T>C	ENSP00000444178.1:n.*538T>C
ENST00000537682.5:c.*538T>C	ENSP00000438611.1:n.*538T>C
ENST00000538326.5:c.*887T>C	ENSP00000437486.1:n.*887T>C
ENST00000539145.5:c.1183T>C	ENSP00000444471.1:n.1183T>C
ENST00000541159.5:c.1804T>C	ENSP00000438711.1:n.1804T>C
ENST00000542898.5:c.*538T>C	ENSP00000444615.1:n.*538T>C
ENST00000570511.5:c.1667T>C	ENSP00000458312.1:n.1667T>C
ENST00000572244.5:c.952T>C	ENSP00000461186.1:n.952T>C
ENST00000574583.5:c.1034T>C	ENSP00000460269.1:n.1034T>C
ENST00000576315.5:c.1067T>C	ENSP00000460551.1:n.1067T>C
ENST00000621655.1:c.1799T>C	ENSP00000481436.1:n.1799T>C
NM_000243.2:c.2262T>C , LRG_190t1:c.2262T>C	NP_000234.1:p.Pro754=
NM_001198536.1:c.*466T>C	NP_001185465.1:n.*466T>C
XM_017023236.2:c.2259T>C	XP_016878725.1:p.Pro753=
NM_000243.3:c.2262T>C MANE Select	NP_000234.1:p.Pro754=
NM_001198536.2:c.*466T>C	NP_001185465.2:n.*466T>C