Canonical Allele Identifier: CA394485632

Gene: MEFV

Linked Data

• dbSNP Id: rs1398984742
• gnomAD v2: 16-3293328-A-G
• gnomAD v4: 16-3243328-A-G
• MyVariant Identifiers: chr16:g.3293328A>G (hg19) ; chr16:g.3243328A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243328A>G , CM000678.2:g.3243328A>G	GRCh38
NC_000016.9:g.3293328A>G , CM000678.1:g.3293328A>G	GRCh37
NC_000016.8:g.3233329A>G	NCBI36
NG_007871.1:g.18300T>C , LRG_190:g.18300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1280T>C
ENST00000219596.6:c.2159T>C MANE Select	ENSP00000219596.1:p.Ile720Thr
ENST00000219596.5:c.2159T>C	ENSP00000219596.1:p.Ile720Thr
ENST00000339854.8:c.1619T>C	ENSP00000339639.4:p.Ile540Thr
ENST00000536379.5:c.1526T>C	ENSP00000445079.1:p.Ile509Thr
ENST00000536980.5:c.*435T>C	ENSP00000444178.1:n.*435T>C
ENST00000537682.5:c.*435T>C	ENSP00000438611.1:n.*435T>C
ENST00000538326.5:c.*784T>C	ENSP00000437486.1:n.*784T>C
ENST00000539145.5:c.1080T>C	ENSP00000444471.1:n.1080T>C
ENST00000541159.5:c.1701T>C	ENSP00000438711.1:n.1701T>C
ENST00000542898.5:c.*435T>C	ENSP00000444615.1:n.*435T>C
ENST00000570511.5:c.1564T>C	ENSP00000458312.1:n.1564T>C
ENST00000572244.5:c.849T>C	ENSP00000461186.1:n.849T>C
ENST00000574583.5:c.931T>C	ENSP00000460269.1:n.931T>C
ENST00000576315.5:c.964T>C	ENSP00000460551.1:n.964T>C
ENST00000621655.1:c.1696T>C	ENSP00000481436.1:n.1696T>C
NM_000243.2:c.2159T>C , LRG_190t1:c.2159T>C	NP_000234.1:p.Ile720Thr
NM_001198536.1:c.*363T>C	NP_001185465.1:n.*363T>C
XM_017023236.2:c.2156T>C	XP_016878725.1:p.Ile719Thr
NM_000243.3:c.2159T>C MANE Select	NP_000234.1:p.Ile720Thr
NM_001198536.2:c.*363T>C	NP_001185465.2:n.*363T>C